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261 Cards in this Set
- Front
- Back
implantation of blastocyst occurs within how long?
|
one week
|
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within what week does the bilaminar disk form?
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week 2
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gastrulation, primitive streak, and neural plate begin to form within what week of gestation?
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week 4
|
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the embryo is extremely susceptible to teratogens during what span of weeks?
|
weeks 3-8
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the neural tube is formed and organogenesis occurs during what weeks?
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weeks 3-8
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when does the heart begin to beat and the upper and lower limb buds begin to form?
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week 4
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by when do genitalia have male/female characteristics?
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week 10
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name the 2 germ layers present in week 2
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epiblast, hypoblast
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what 2 cavities are present in week 2?
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amniotic cavity, yolk sac
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what 2 components of the placenta are present during week 2?
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cytotrophoblast, syncytiotrophoblast
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what 3 germ layers are present in the third week and what stage is the embryo in?
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ectoderm, mesoderm, endoderm; gastrula
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the lens of the eye is derived from what germ layer?
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surface ectoderm
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what germ layer is the adenohypophysis derived from?
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surface ectoderm
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what germ layer is the neurohypophysis derived from?
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neuroectoderm (remember 'neuro')
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CNS neurons, oligodendrocytes, astrocytes are derived from which germ layer?
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neuroectoderm
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what are the ANS, DRG, cranial nerves derived from?
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neural crest
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melanocytes and parafollicular (C) cells are derived from what?
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neural crest (C cells = Crest)
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dura mater, CT, bone, muscle, are all derived from what germ layer?
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mesoderm
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pia, arachnoid, and Schwann cells arise from what?
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neural crest
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lymph, blood, spleen, kidneys arise from what?
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mesoderm
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extraocular muscles are derived from what layer?
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mesoderm
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the dermis is derived from what layer?
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mesoderm
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lungs, liver, pancreas, thymus, parathyroid all arise from what?
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endoderm - gut tube epithelium and derivatives
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thyroid follicular cells arise from what layer?
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endoderm
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what is the postnatal derivative of the notochord?
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nucleus polposus of the intervertebral disk
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what is the role of the notochord?
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induces ectoderm to form neuroectoderm (neural plate)
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which is teratogenic: warfarin or heparin?
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warfarin - causes multiple anomalies
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exposure to ACE inhibitors in utero can have what effect on fetus?
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renal damage
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what is the role of the umbilical arteries?
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return DEoxygenated blood from fetal internal iliac arteries
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what is the role of the allantoic duct?
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removes nitrogenous waste (from fetal bladder, like a urethra)
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what does the truncus arteriosus give rise to?
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ascending aorta and pulmonary trunk
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the smooth parts of left and right ventricle arise from what embryonic structure?
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bulbous cordis
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the trabeculated parts of the ventricles and atria arise from what?
|
primitive ventricle and atria
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from what embryologic structure does the coronary sinus originate?
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left horn of sinus venosus
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the smooth part of the right atrium comes from what?
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right horn of sinus venosus
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what does the SVC arise from?
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right commmon cardinal vein and right anterior cardinal vein
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oxygenated blood reaching the heart via the IVC is diverted through ________ and pumped out the aorta to the head
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foramen ovale
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this structure provides a pulmonary-to-systemic shunt
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ductus arteriosus (deoxygenated blood from the SVC is expelled into the pulmonary artery and ductus arteriosus o the lower body of the fetus)
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blood entering the fetus through the umbilical vein is conducted via what shunt into the IVC?
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ductus venosus
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what do you use to keep a patent PDA open?
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prostaglandins (3 P's)
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the umbilical vein becomes what structure postnatally?
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ligamentum teres hepatis
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the umbilical arteries become what structure postnatally?
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mediaL umbilical ligaments
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what is the postnatal correlate to the allantois?
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mediaN umbilical ligament
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what does the first aortic arch give rise to?
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part of the maxillary artery (1st is MAXimal)
|
|
what does the second aortic arch give rise to?
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stapedial and hyoid artery (Second-Stapedial)
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the common carotid artery and proximal part of internal carotid are derived from which aortic arch?
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3rd (c is 3rd letter of alphabet)
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what structures does the 4th aortic arch give rise to?
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on left - aortic arch; on right - proximal part of subclavian artery
|
|
what does the 6th aortic arch give rise to?
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proximal part of pulmonary arteries and (on left only) ductus arteriousus
|
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branchial arch 1 derivatives are supplied by what nerves?
|
CN V2, V3 (1, 2, 3)
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|
branchial arch 2 derivatives are supplied by what nerve?
|
CN VII (2 II's)
|
|
CN IX supplies the derivatives of which branchial arch?
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arch 3
|
|
branchial arches 4 and 6 are supplied by what nerve?
|
CN X (4+6=10) (4th arch - superior laryngeal branch, 6th arch - recurrent laryngeal branch)
|
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all of the intrinsic muscles of the larynx are derived from the 6th branchial arch except what?
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cricothyroid
|
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which branchial arches form the posterior 1/3 of tongue?
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arches 3 and 4
|
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which branchial arch makes no developmental contributions?
|
arch 5
|
|
which nerves are responsible for taste?
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solitary nucleus - CN VII, IX, X
|
|
tongue sensation is supplied by which nerves?
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CN V3, IX, X
|
|
motor innervation to the tongue comes from which nerve?
|
CN XII
|
|
what does the first branchial cleft develop into?
|
external auditory meatus
|
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what do the 2nd through 4th branchial clefts form and then what happens to them?
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they form temporary cervical sinues but are obliterated by proliferation of 2nd arch mesnchyme
|
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what can a persistent cervical sinus lead to?
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a branchial cyst in the neck
|
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the 1st branchial pouch develops into what?
|
endoderm-lined ear structures - middle ear cavity, eustachian tube, mastoid air cells
|
|
which branchial pouch does the epithelial lining of the palatine tonsil derive from?
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2nd pouch
|
|
the inferior parathyroids develop from which branchial pouch?
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3rd pouch (dorsal wings) - 3 is inferior to 4
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the ventral wings of the 3rd pouch develop into what structure?
|
thymus
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which branchial pouch do the superior parathyroids develop from?
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4th pouch
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aberrant development of 3rd and 4th pouches results in what syndrome?
|
DiGeorge's - leads to T-cell deficiency (thymic aplasia) and hypocalcemia (failure of parathyroid development)
|
|
what is the most common site for ectopic thyroid tissue?
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tongue
|
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cleft lip results from the failure of fusion of what?
|
maxillary and medial nasal processes (primary palate)
|
|
cleft palate results form the failure of fusion of what?
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lateral palatine processes, the nasal septum, and/or median palatine process (formation of secondary palate)
|
|
what does the ventral pancreatic bud differentiate into?
|
pancreatic head, uncinate process (lower half of head), and main pancreatic duct
|
|
the spleen arises from dorsal mesentery but is supplied by artery of which gut?
|
foregut
|
|
the genital tubercle gives rise to what strucures?
|
glans penis, glans clitoris (3 g's)
|
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what structure do the corpus spongiosum and vestibular bulbs arise from?
|
urogenital sinus
|
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what is the female analogue of the bolbourethral glands (Cowper's), and what do they arise from?
|
greater vestibular glands (Bartholin's); urogenital sinus
|
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which branchial arch supplies: mandible, malleus, incus, sphenomandibular ligament, muscles of mastication (temporalis, masseter, lateral and medial pterygoids), mylohyoid, anterior belly of digastric, tensor tympani, tensor veli, palatini, and anterior 2/3 of tongue?
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branchial arch 1
|
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which branchial arch supplies: stapes, styloid process, lesser horn of hyoid, stylohyoid ligament, muscles of facial expression, stapedius, stylohyoid, posterior belly of digastric?
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branchial arch 2
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what cartilage and muscle does branchial arch 3 supply?
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greater horn of hyoid, stylopharyngeus (CN IX)
|
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thyroid, cricoid, arytenoid, coniculate, and cuneiform cartilages are derivatives of which branchial arches?
|
branchial arches 4-6
|
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most pharyngeal constrictors, cricothyroid, levator veli palatini are supplied by which branchial arch?
|
branchial arch 4
|
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the superior laryngeal branch of CN X supplies which branchial arch?
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4th branchial arch
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the recurrent laryngeal branch of CN X supplies which branchial arch?
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6th
|
|
what placental component is derived from the mother rather than the fetus?
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lacunar network
|
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the omental bursa and greater omentum are derived from what?
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dorsal mesogastrium, which is the mesentary of the stomach regoin
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what does an ostium primum type of ASD result from
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failure of the septum primum to fuse with the endocardial cushions
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what does a sacrococcygeal teratoma arise from? what is it?
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tumor that arises from remnants of the primitive streak (which normally disappears); more common in female infants; usually becomes malignant during infancy and must be removed before 6 mos.
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what is a chordoma?
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tumor that arises from remnants of notochord - may be found intracranially or in sacral region; usually occurs in men late in life
|
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what is caudal dysplasia and what causes it?
|
constellation of syndromes ranging from minor lesions of vertebrae to complete fusion of lower limbs - caused by abnormal gastrulation
|
|
what causes tetralogy of fallot?
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abnormal neural crest cell migration such that there is skewed development of the AP septum
|
|
list the four classic malformations associated with tetralogy of fallot
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pulmonary stenosis, overriding aorta, VSD, RVH
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what is the most common clinically significant ASD?
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foramen secundum defect - caused by excessive resorption of septum primum, septum secundum, or both
|
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what is the most common type of VSD?
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membranous VSD
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what is the cause of a membranous VSD?
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faulty fusion of the right bulbar ridge, left bulbar ridge, and AV cushions
|
|
postductal coartctation of the aorta is commonly associated with what syndrome?
|
turner's syndrome (XO)
|
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which crosses the placenta: IgM or IgG?
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IgG
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|
AFP is elevated in what type of defects?
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neural tube - spina bifida, anencephaly
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what is the cause of spina bifida occulta and how common is it?
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defect in the vertebral arches (least severe variation; tuft of hair); occurs in 10% of the population
|
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what causes spina bifida with meningocele?
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occurs when the meninges project through a vertebral defect, forming a sac filled with CSF
|
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what is a meningomyelocele?
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meninges and spinal cord project through a vertebral defect, forming a sac
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what is the most severe type of spina bifida?
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spina bifida with myeloschisis - open neural tube that lies on surface of back
|
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what is the result when the anterior neuropore fails to close?
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anencephaly - most common defect seen in stillborn fetuses
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|
what is an arnold-chiari malformation?
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cerebellomedullary malformation in which caudal cerebellar vermis and tonsils and medulla herniate through the foramen magnum
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why does arnold-chiari malformation result in hydrocephalus?
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because the outlet foramina of the fourth ventricle are obliterated (obstructive hydrocephalus)
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arnold-chiari malformation is commonly associated with what other defects?
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lumbar meningomyelocele, platybasia, aqueductal stenosis
|
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congenital deafness is associated with in utero exposure to what virus?
|
rubella
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name five causes of congenital cataracts
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rubella, toxoplasmosis, congenital syphilis, down syndrome, galactosemia (inborn metabolic error)
|
|
what is associated with polyhydraminos and tracheoesophageal fistula?
|
esophageal atresia
|
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annular pancreas is associated clinically with what shortly after birth?
|
obstruction of duodenum
|
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when does an accesory pancreatic duct develop?
|
when the proximal part of the dorsal bud duct persists and enters the duodenum at its own site
|
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what happens when fetal islets are exposed to high blood glucose levels?
|
accelerated development of pancreatic islets; associated with increased birth weight
|
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how does an omphalocele present in a newborn?
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a light gray, shiny sac protruding from the base of the umbilical cord
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when does an omphalocele occur?
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when the intestines (midgut loop) fail to return to the abdominal cavity
|
|
meckel's diverticulum occurs when a remnant of what persists?
|
vitelline duct
|
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what occurs when the vitelline duct remains open
|
vitelline fistula - may present with fecal discharge at the umbilicus
|
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what is gastroschisis and when does it occur?
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protrusion of the viscera - occurs when there is a defect in the ventral abdominal wall
|
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what is malrotation of the midgut associated with clinically?
|
volvulus
|
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where is the appendix normally located in relation to the cecum and where is it located when it is retrocecal or retrocolic?
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normally found on the medial side of the cecum; retrocecal/colic - located on posterior side of cecum or colon
|
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during the canalicular period of lung development (wks 3-15), what develops?
|
respiratory bronchioles and terminal sacs (primitive alveoli); premature infants born at less than 20 wks gestation rarely survive
|
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when does differentiation of type I and type II pneumocytes begin?
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week 24; premature fetuses born b/w wk 25-28 can survive w/ intensive care - earliest period at which fetuses can survive
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name two defects that pulmonary hypoplasia can be found in association with
|
congenital diaphragmatic hernia and bilateral renal agenesis
|
|
when does a pharyngeal fistula occur and where is it generally located?
|
occurs when pharyngeal pouch 2 and pharyngeal groove 2 persist - forms patent opening from the internal tonsillar area to the external neck; found along the anterior border of the SCM
|
|
what causes first arch syndrome?
|
lack of migration of neural crest cells into branchial arch 1 (treacher collins, pierre robin)
|
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what happens when the ureteric bud fails to develop?
|
renal agenesis
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what is the result of bilateral renal agenesis?
|
potter syndrome - oligohydraminos allows uterine wall to compress fetus: deformed limbs, wrinkly skin, abnormal facial appearance
|
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why is normal ascent of the kidneys arrested with horseshoe kidney?
|
the fused portion gets trapped behind the IMA
|
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when does duplication of the urinary tract occur?
|
when the ureteric bud prematurely divides before penetrating the metanephric mesoderm
|
|
what other malformation is associated with exstrophy of the bladder?
|
epispadias
|
|
cyst found along the midline on a path from the umbilicus to the apex of the urinary bladder
|
urachyl cyst - remnant of allantois persists
|
|
of what origin are the primitive neuroblasts found in neuroblastoma?
|
neural crest
|
|
name the three classic areas described in wilms' tumor
|
stromal area, tightly-packed embryonic cells, small tubules
|
|
what causes hypospadias?
|
urethral folds fail to fuse completely, resulting in the external urethral orifice opening onto the ventral surface of the penis
|
|
what is the defect in osteogenesis imperfecta?
|
type I collagen
|
|
what protein is defective in marfan's?
|
fibrillin
|
|
chances of achondroplasia increase with what?
|
increasing paternal age
|
|
unusually flat abdomen, breathlessness, and cyanosis in a newborn may be signs of what?
|
congenital diaphragmatic hernia
|
|
on which side is a congenital diaphragmatic hernia most commonly found, and what causes it?
|
left posterolateral side; caused by failure of pleuroperitoneal membrane to develop
|
|
an infant who vomits when laid on its back may have what?
|
esophageal hiatal hernia - renders esophagogastric sphincter incompetent so that stomach contents reflux into esophagus
|
|
deletion in the short arm of chromosome 5 results in what?
|
cri du chat syndrome
|
|
deficits such as MR, microcephaly, heart defects, and cat-like cry are characteristic of what?
|
cri du chat syndrome
|
|
what is the chromosomal abdnormality associated with Prader-Willi syndrome?
|
deletion of band q12 on chromosome 15 (found in the father)
|
|
MR, hyperphagia, and hypogonadism are characteristics of what congenital syndrome?
|
Prader-Willi
|
|
what is the chromosomal abdnormality associated with angelman syndrome
|
deletion of band q12 on chromosome 15 (found in the mother)
|
|
what are characteristics of angelman syndrome?
|
severe MR, seizures, dystaxia
|
|
the triad of heart defects, cataracts, and deafness are associated with what viral agent?
|
rubella
|
|
MR, microcephaly, cerebral calcifications, blindness and chorioretinitis, and hepatosplenomegaly are associated with what fetal infection?
|
CMV
|
|
MR, hydrocephalus, microcephaly, microphthalmia, chorioretinitis, and intracranial calcifications are associated with what nonviral infection?
|
toxoplasma
|
|
name some characteristics of congenital syphilis
|
MR, hydrocephalus, deafness, corneal opacity and blindness, abnormal teeth (Hutchinson) and bones
|
|
when given to pregnant women, what types of abnormalities can lithium cause in the fetus?
|
congenital anomalies of the heart and great vessels
|
|
MR, microcephaly, craniofacial defects, and nail and digital hypoplasia can result from in utero exposure to what anticonvulsant?
|
phenytoin (dilantin)
|
|
digeorge's syndrome, cardiac malformations, and hirschprung's all result from failure of migration of what type of cells?
|
neural crest cells
|
|
infant who becomes cyanotic while crying may have what?
|
persistent truncus arteriosus
|
|
what does a persistent truncus arteriosus result from?
|
failure of aorticopulmonary system to form
|
|
annular pancreas results from what abnormality?
|
rotation of the ventral pancreatic bud around the second part of the duodenum
|
|
the alar plate forms what part of the spinal cord?
|
dorsal - becomes sensory/afferent
|
|
the basal plate forms what part of the spinal cord?
|
ventral - becomes motor
|
|
90% of PKD cases are due to a mutation in what? what chromosome is it on?
|
APKD1 on chromosome 16
|
|
this autosomal dominant disorder is associated with polycystic liver disease, berry aneurysms, mitral valve prolapse
|
adult polycystic kidney disease
|
|
the juvenile form of PKD is inherited in what manner?
|
autosomal recessive
|
|
what is another name for familial hypercholesterolemia?
|
hyperlipidemia type IIA
|
|
heterozygotes (1:500) with familial hypercholesterolemia have approx. what cholesterol level?
|
300
|
|
homozygotes with familial hypercholesterolemia have approximately what cholesterol?
|
700
|
|
what is the defect in familial hypercholesterolemia?
|
defective or absent LDL receptor
|
|
marfan's results from a defect in what gene?
|
fibrillin - leads to CT disorders
|
|
what are the cardiac findings in marfan's?
|
cystic medial necrosis of aorta -> aortic incompetence and dissecting aortic anuerysms; floppy mitral valve
|
|
cafe-au-lait spots, neural tumors, lisch nodules, skeletal disorders (e.g. scoliosis), pheo, and increased tumor susceptibility are associated with what autosomal dominant disease?
|
neurofibromatosis type I (von Recklinghausen's disease)
|
|
on what chromosome is the defect in neurofibromatosis type I
|
long arm of chromosome 17 - 17 letters in van Recklinghausen
|
|
where is the gene responsible for neurofibromatosis type II?
|
NF2 gene on chromosome 22 (type 2 - 22)
|
|
what are the characteristics of neurofibromatosis type II?
|
bilateral acoustic neuroma, optic pathway gliomas, juvenile cataracts
|
|
what is the inheritance pattern of tuberous sclerosis?
|
autosomal dominant
|
|
what are the skin findings associated with tuberous sclerosis?
|
facial lesions - adenoma sebaceum, hypopigmented 'ash leaf' spots
|
|
cortical and retinal hamartomas, seizures, MR, renal cysts, and cardiac rhabdomyomas are associated with what AD disease?
|
tuberous sclerosis
|
|
what is the genetic deletion associated with von Hippel-Lindau disease?
|
deletion of VHL gene (tumor suppressor) on chromosome 3 - 3 words in VHL
|
|
hemangioblastomas of retina/cerebellum/medulla are associated with what AD disorder?
|
von Hippel-Lindau
|
|
about half of all patients with VHL develop what?
|
multiple bilateral renal cell carcinomas and other tumors
|
|
what is the genetic defect in Huntington's?
|
expansion of CAG repeats on chromosome 4 (CAG - Caudate loses ACh and GABA; hunting 4 food)
|
|
what are symptoms common in Huntington's?
|
depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and ACh in the brain
|
|
on what chromosome is the deletion located in familial adenomatous polyposis?
|
chromosome 5 - 5 letters in polyp
|
|
in what autosomal dominant disorder do adenomatous polyps in the colon develop after puberty?
|
familial adenomatous polyposis
|
|
what is increased in hereditary spherocytosis?
|
MCHC
|
|
in what fashion is spherocytosis inherited?
|
autosomal dominant
|
|
what is the defect in achondroplasia?
|
cell-signaling defect of FGF receptor 3 - dwarfism - short limbs but head and trunk are normal size (autosomal dominant)
|
|
how is cystic fibrosis inherited and where is the gene defect?
|
autosomal recessive; defect in CFTR gene on chromosome 7
|
|
what finding in sweat is diagnostic for CF?
|
increased concentration of Cl- ions
|
|
what drug is given to patients with CF to loosen mucous plugs?
|
n-acetylcysteine
|
|
how do you diagnose muscular dystrophies?
|
increased CPK and muscle biopsy
|
|
how is Duchenne's inherited? what kind of mutation occurs? what does it lead to?
|
X-linked; frame-shift mutation - deletion of dystrophin gene - accelerated muscle breakdown
|
|
where does muscle weakness begin in Duchenne's?
|
pelvic girdle muscles and progresses superiorly
|
|
why does pseudohypertrophy of calf muscles occur in Duchenne's? what CV abnormality can occur?
|
fibrofatty replacement of muscle; cardiac myopathy
|
|
what is the genetic defect in Fragile X?
|
X-linked defect affecting the methylation and expression of the FMR1 gene - triplet repeat disorder (CGG)n
|
|
what syndrome is associated with macro-orchidism, long face with large jaw, large everted ears, and autism?
|
Fragile X
|
|
name 4 trinucleotide repeat expansion diseases
|
Huntington's, myotonic dystrophy, Friedrich's ataxia, fragile X (try hunting for my fried eggs)
|
|
what is the most common cardiac malformation in Down syndrome?
|
septum primum-type ASD due to endocardial cushion defects
|
|
MR, flat facial profile, prominent epicanthal folds, simian crease, duodenal atresia, and congenital heart disease are associated with what syndrome?
|
Down syndrome
|
|
people with Down syndrome are at increased risk for developing what leukemia?
|
ALL
|
|
95% of cases of Down syndrome are due to what?
|
meiotic nondisjunction of homologous chromosomes associated with advanced maternal age (from 1:1500 women under 20 to 1:25 in women over 45)
|
|
what percent of cases of Down syndrome are due to robertsonian translocation, and what percent are due to Down mosaicism (no maternal association)
|
4%; 1%
|
|
severe MR, rocker bottom feet, low set ears, micrognathia (small jaw), congenital heart disease, clenched hands, prominent occiput are associated with what syndrome?
|
Edward's - trisomy 18
|
|
severe MR, microphthalmia, microcephaly, cleft lip/palate, abnonrmal forebrain structures, polydactyly, congenital heart disease are found in what syndrome?
|
Patau's syndrome - trisomy 13
|
|
46, XX or XY, 5p-
|
cri du chat - deletion of short arm of chromosome 5 (cri du has 5 letters)
|
|
microcephaly, severe MR, high pitched crying, epicanthal folds, and cardiac abnormalities are found in what syndrome?
|
cri du chat
|
|
variable presentation as DiGeorge syndrome or velocardiofacial syndrome is associated with what chromosomal abnormality?
|
microdeletion at chromosome 22q11
|
|
developmental retardation, microcephaly, facial abnormalities, limb dislocation, and heart and lung fistulas are associated with what syndrome?
|
fetal alcohol syndrome
|
|
what is the number one cause of congenital malformations in the U.S.?
|
fetal alcohol syndrome
|
|
defects seen in fetal alcohol syndrome may occur as a result of what?
|
inhibition of cell migration
|
|
where is the break point in Fragile X?
|
q27.3 on X chromosome
|
|
the test for this condition involves culturing lymphocytes in a folate-deficient medium or with chemical agents such as methotrexate that tend to break chromosomes?
|
fragile X
|
|
the onset of preeclampsia before week 20 is suggestive of what?
|
hyatidaform mole
|
|
this chromosomal defect is the most common of those causing spontaneous abortions
|
trisomy 16
|
|
what 4 trisomies can be seen in live births?
|
8, 13, 18, 21
|
|
what is the only lipid storage disease that is X-linked?
|
Fabry's disease
|
|
uniparental disomy for chromosome 15 can cause what syndrome?
|
angelman
|
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what is type I familial dyslipidemia?
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hyperchylomicronemia
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what is increased in type I/hyperchylomicronemia?
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blood TG, cholesterol levels
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what is the deficiency in type I/hyperchylomicronemia?
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lipoprotein lipase deficiency or altered apo C-II
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what is type IIb familial dyslipidemia?
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combined hyperlipidemia
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what is incresed in combined hyperlipidemia?
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LDL, VLDL
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what is the defect in combined hyyperlipidemia?
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hepatic overproduction of VLDL
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what is type III familial dyslipidemia?
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dysbetalipoproteinemia
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what is increased in dysbetalipoproteinemia? what is elevated in blood?
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ILDL, VLDL
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TG, cholesterol
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what is the pathophysiology of type III/dysbetalipoproteinemia?
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altered apo E
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what is increased in type IV/hypertriglyceridemia? what is elevated in blood?
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VLDL; TG
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what is the pathophysiology of hypertriglyceridemia?
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hepatic overproduction of VLDL
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what is increased in type V/mixed hypertriglyceridemia? what is elevated in blood?
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VLDL, chylomicrons, TG, cholesterol
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what is the pathophysiology of type V/mixed hypertriglyceridemia?
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increased production/decreased clearance of VLDl and chylomicrons
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bcl-2
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follicular and undifferentiated lymphomas
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erb-2
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breast, ovary, stomach cancer
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n-myc
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neuroblastoma
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ret
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MEN I/II
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l-myc
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small cell lung cancer
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what is pleiotropy?
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single mutation exerts multiple effects
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when are Barr bodies seen?
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any individual with 2 X chromosomes
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what is variable expression?
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nature and severity of phenotype varies from 1 individual to another
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what is incomplete penetrance?
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not all individuals with a mutant genotype show the mutant phenotype
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what is pleiotropy?
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one gene has more than one effect on an individual's phenotype
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whatis imprinting?
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differences in phenotype depend on whether the mutation is of maternal or paternal origin (e.g. angelman's - maternal; prader-willi - paternal)
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what is it called when a the severity of a disease worsens or age of onset of disease is earlier in succeeding generations?
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anticipation
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what is loss of heterozygosity?
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if a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops - not true for ongogenes
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what is a dominant negative mutation?
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exerts a dominant effect - a heterozygote produces a nonfunctional altered protein taht also prevents the normal gene product from functioning
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what is linkage disequilibrium?
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tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - measured in a population, not a family, and often varies in different populations
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what is mosaicism?
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occurs when cells in the body have different genetic makeup - e.g. lyonization - random X inactivation in females
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what is locus heterogeneity?
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mutations at different loci can produce the same phenotype (e.g. albinism)
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if a population is in Hardy-Weinberg equilibrium, then disease prevalence equals what?
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p2 + 2pq + q2 = 1
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if a population is in Hardy-Weinberg equilibrium, then what does allele prevalence equal?
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p + q = 1
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for Hardy-Weinberg - p and q are separate alleles: what does 2pq equal?
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heterozygote prevalence
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hypophosphatemic rickets is inherited in what manner?
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X-linked dominant - transmitted through both parents - either male or female offspring of the affected mother may be affected, while all female offspring of the affected father are diseased
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name 2 diseases with mitochondrial inheritance
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Leber's hereditary optic neuropathy; mitochondrial myopathies
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what is heteroplasmy?
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presence of normal as well as mutated mitochondrial DNA
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what is nondisjunction?
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failure of separation of chromosomes
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what is a balanced translocation?
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occurs when non-homologous chromosomes exchange genetic material in such a way that no critical genetic material is lost
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what is an unbalanced translocation?
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occurs when non-homologous chromosomes exchange genetic material with a net loss or gain of critical genetic material
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what is an inversion?
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chromosomal rearrangement in which the central segment produced by two breaks is inverted prior to repair of the breaks
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inversions that include the centromere are called what?
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pericentric
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what do you call inversions that don't include the centromere?
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paracentric
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what is the outcome of a crossoer event within a paracentric inversion?
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formation of an acentric fragment and dicentric bridge - this cell will not complete meiosis
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an abnormality in what can produce tirpolar mitoses?
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mitotic spindle
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what is synapsis?
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pairing of homologous chromosomes with which meiosis begins
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the incidence of an X-linked recessive disease in the male portion of a population is a direct estimate of what?
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the gene frequency in the population
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what is confined placental mosaicism?
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consequence of a genetic aberration occuring in the trophoblast or in extraembryonic progenitor cells in the ICM - the genetic abnormality leads to abnormal placental development and intrauterine growth retardation
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what is the only topoisomerase that can introduce negative supercoils into DNA?
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DNA gyrase - used to stabilize underwound helices
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what do hammerhead ribozymes do?
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catalyze sequence-specific cleavage of RNA phosphodiester bonds due to the secondary structure they form
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