Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
41 Cards in this Set
- Front
- Back
|
Aneuploidy
|
Deviation from chromosomal number that is NOT a multiple of haploid number of 23!
Cause = Nondisjunction Result = Trisomy or Monosomy, which can both be either Autosomal or Sex Chromosome |
|
|
Polyploidy
|
Abnormal chromosome number that IS a MULTIPLE OF THE HAPLOID NUMBER (ie. multiple of 23)
Examples: Triploidy (20% abort), Tetraploidy (Blighted Embryo) Cause: Dispermy (fertilized by 2 or more sperm) Result: Most fetuses spontaneously abort, or die within days. |
|
|
Examples of Trisomy of _____:
A) Autosomes (3) B) Sex Chromosomes (2) |
A) Autosomes
1-Trisomy 21 2-Trisomy 18 3-Trisomy 13 B) Sex Chromosomes 1-Klinefelter Syndrome 2-Triple X |
|
|
Example of Monosomy of Sex Chromosome:
|
Turner Syndrome - 45 XO
Diagnostic Sign = Swelling and Puffiness of an Infant's Feet Symptoms = Female infants with the following: -Webbed Neck w/ Extra Skin -Prominent Ears -Short Stature -LACK of Sexual Maturity |
|
|
Trisomy 21
|
Down's Syndrome
Features: -Mental Deficiency -Flat Nasal Bridge -Slanted Palpebral Fissures and Epicanthal Folds -Congenital Heart Defects (Endocardial Cushion Defect) -Simian Crease in Palm of Hands |
|
|
Trisomy 18
|
Edward's Syndrome
Features: -Mental Deficiency -Growth Retardation -Prominent Occiput -Short Sternum/Narrow Pelvis -Micrognathia (Small Jaw) -VSDs -Low-Set, Malformed Ears -Characteristic Finger Positioning -Rocker-Bottom Feet |
|
|
Trisomy 13
|
Patau's Syndrome
Features: -Mental Deficiency -Severe CNS Malformations -Scalp Defects with Sloping Forehead -Malformed Ears -Bilateral Cleft Lip and/or Palate -Polydactyly |
|
|
Klinefelter Syndrome
|
XXY Males
Features: -Tall Children -Extremely Long Limbs -Small Testes -Usually Sterile |
|
|
Triple X (XXX) and XYY
|
XXX:
Female, normal in appearance 15-25% are mentally retarded XYY: Male, normal in appearance, usually tall and agressive. |
|
|
Role of TGF-Beta and BMP4 Genes
|
Both cause Epidermal (Skin) Differentiation of Neural Precursor Cells
Lack of BMP4 = Neuronal Differentiation |
|
|
Role of Retinoic Acid in Axis Formation
|
Establishes A-P axis mediated by HOX genes
|
|
|
Role of Shh Gene
|
Establishes Dorsoventral Axis in Neural Tube
Ventral = Shh = Motor Neurons Dorsal = BMP4 = Sensory Neurons CHOLESTEROL CRITICAL! |
|
|
3 Areas where Mesoderm is NOT between Endo/Ectoderm?
|
Oropharyngeal Membrane
Notochordal Process Cloacal Membrane |
|
|
Role of FGF 8 in Body Axis Formation
|
Left-Right Axis
Induces Nodal Expression ONLY on LEFT side |
|
|
Sacrococcygeal Teratoma
|
Remnant of Primitive Streak (usually disappears by beginning of 4th week)
Usually benign, but are STILL associated with significant morbidity/mortality due to secondary effects: dystocia and traumatic delivery, prematurity, exsanguination from hemorrhage into the tumor, or high output failure secondary to a steal phenomenon. Associated with Fetal Hydrops, which can lead to polyhydramnios. Findings of polyhydramnios, plancentomegaly or fetal hydrops are indications for fetal surgery. Since Primitive Streak is Pluripotent, these tumors have many types of tissues. MOST COMMON TUMORS IN NEW BORNS |
|
|
Impaired neural crest cell migration on cutaneous development?
|
Albinism!
|
|
|
Most common type of TE fistula?
|
Esophageal atresia with distal TE fistula
|
|
|
Most frequent CHD?
|
VSD!
|
|
|
Cyanosis Symptoms
|
5 Ts
TA - Transposition of Aorta TGA - Transposition of Great Arteries (pulmonary + aorta) Tricuspid Atresia Tetrology of Fallot TAPVR (Total Anomalous Pulmonary Venous Return) |
|
|
Tetralogy of Fallot Classic Malformations
|
P OR V
Pulmonary Artery Stenosis Overriding Aorta Right Ventricular Hypertrophy Ventricular Septal Defect (Membranous) |
|
|
When do eyelids open?
|
26 Weeks
|
|
|
When is Lanugo shed?
|
32-36 Weeks
|
|
|
Weight of Fetus at 20 Weeks, 22 Weeks?
|
20 = < 500 gm
22 = 640 gm |
|
|
Abdominal X-Ray Signs:
A. Olive B. Soap bubble C. Double bubble D. Apple peel E. Prune belly |
A. Olive – pyloric stenosis
B. Soap bubble- meconium ileus C. Double bubble* – duodenal atresia D. Apple peel – ileal atresia aka ‘Christmas tree’ E. Prune belly – absence of abdominal musculature |
|
|
Absence of 1 Vas Deferens is indicative of what?
|
Unilateral Renal Agenesis
|
|
|
External Branchial Sinus/Cervical Sinus
|
Failure of 2nd Groove and Cervical Sinus to Obliterate
Opens along Anterior Border of SCM Mucous Discharge! |
|
|
Internal Branchial Sinus
|
Persistence of Proximal Parts of 2nd Pharyngeal Pouch
Opens into Tonsilar Sinus/Fossa |
|
|
Branchial Fistula
|
Persistence of Parts of 2nd Pharyngeal Groove
2 Openings: 1) Neck 2) Tonsillar Sinus, by passing through Carotid Sheath between Internal/External Carotids |
|
|
Branchial Cyst
|
Persistence of 2nd Pharyngeal Groove or Cervical Sinus
Painless swelling in neck, inferior to angle of mandible Noticed in late childhood/ early adulthood |
|
|
First Pharyngeal Arch Syndromes (2)
|
Insufficient migration of Neural Crest Cells into 1st Arch During 4th Week
1) Treacher Collins - Auto D! 2) Pierre Robin - Auto R! |
|
|
Pierre Robin Syndrome
|
AUto -R!
Hypoplasia of Mandible Cleft Palate, Often BILATERAL Defects of Eye and Ear |
|
|
Treacher Collins Syndrome
|
Auto-D!
Hypoplasia of Mandible Hypoplasia of Zygomatic Bones (Malar Hypoplasia) Down Slanting Palpebral Fissures Defects of Lower Eyelid Deformed External Ears |
|
|
Thyroglossal Duct Cyst/Sinus
|
Persistence of a remnant of Thyroglossal Duct
Midline of Neck Painless Moveable Mass Usually Diagnosed Before 5 Years of Age Can Occur ANYWHERE along Migratory Pathway |
|
|
1) Totipotent Cells
2) Pluripotent Cells 3) Multipotent Cells |
1) T
Zygotes and Cells of the Blastomere (prior to diff into inner/outer cell mass) - Can become any cell of trophoblast OR embryoblast! 2) P Embryoblast Cells - Can become any cell of embryoblast, but NOT trophoblast 3) M Blood Stem Cells, Skin Stem Cells - Committed to a special Function |
|
|
Cleft Palate Anterior
|
Deficiency of Mesenchyme in Maxillary and Intermaxillary Segment
Failure of Lateral Palatine Processes to Meet and Fuse with Primary Palate |
|
|
Cleft Palate Posterior
|
Defective Development of Secondary Palate
Failure of Fusion of Lateral Palatine Processes and Nasal Septum |
|
|
Oligohydramnios
|
Low Volume of Amniotic Fluid for Gestational Age
Most Common Cause = Premature rupture of amniochorionic membrane Result = Premature labor/birth Suggestive of what? RENAL AGENESIS and/or Obstructive Uropathy! |
|
|
Polyhydramnios
|
Fetus does not swallow normal amounts of fluid, leading to HIGH VOLUME
Associated with ESOPHAGEAL ATRESIA or Severe CNS Anomalies |
|
|
Vernix Caseosa
|
Exfoliated Periderm Cells + Sebum
Covers fetal body by 18 weeks, has antibiotic properties, protects skin from waste products in amniotic fluid, may facilitate birth. Premature Infants have a thicker coating of Vernix Caseosa. |
|
|
Fetal Heart Beat
|
Begins to Beat at 22 Days
Heard through Doppler Amp at 8 Weeks Stethoscope at 20 Weeks |
|
|
At what weight are fetuses unlikely to survive?
|
Less than 500 gm
|
