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40 Cards in this Set
- Front
- Back
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If a mother passes on an abnormal 11q region on chromosome 15, the offspring will have _____________ syndrome, but if a father passes on this same abnormal region, the offspring will have ____________ syndrome. This is an example of genomic imprinting, or when a gene defect is expressed solely based on the sex of the parent passing on the defective gene.
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Angelman syndrome if mom; Prader-Willi syndrome if dad
BRS 120 |
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Differentiate between malformation, deformation and disruption with regards to abnormalities of morphogenesis.
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Malformation= intrinsically abnormal process forms abnormal tissue
Deformation = mechanical forces exerted on normal tissue result in abnormal tissue (oligohydramnios causes abnormally postured limbs) Disruption = normal tissue becomes abnormal after subjected to destructive forces (decreased blood flow to an organ causes tissue ischemia, eventually resulting in an atretic organ) BRS 120-1 |
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What are the three maternal serum markers used to assess the fetus for trisomy syndromes and what are the general levels (high, normal, low) of each of the following:
A. Trisomy 21 B. Trisomy 13 C. Trisomy 18 D. Neural Tube defect |
A. Trisomy 21: low AFP & unconjugated estriol, high beta-HCG
B. Trisomy 13: IS NOT SCREENED WITH TRIPLE SCREEN C. Trisomy 18: low values of all three D. Neural Tube defects: high AFP. Can represent neural tube defects like anencephaly, spinabifida, or even ventral wall defects like imphalocele, gastroschisis , or even multiple gestations or inaccurate dates. Triple test is usually performed in the second trimester at about 15-18 weeks of gestation. BRS 120-1; Secrets 207 |
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When does each of the following things for fetal evaluation and prenatal diagnosis occur and what does it collect and assess for?
A. amniocentesis B. chorionic villus sampling C. triple screen |
A. amniocentesis: done at 16-18 weeks gestation and collects amniotic fluidcontaingin sloughed fetal cells. Assesses for genetic and metabolic diseases. (Many who have an abnormal, or positive, triple screen go on to get an amniocentesis as part of the workup so try and remember it since they both are done at roughly the same weekspan!)
B. chorionic villus sampling: done at 10-14 weeks gestation, assesses for the same things as amniocentesis C. triple screen: assesses for Trisomy 21 (low AFP and unconjugated estriol but high beta-hcg!), Trisomy 18 (low everything), and neural tube defects (high AFP). Done 15-18 weeks. BRS 121 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Connective tissue disorder that affects primarily the ocular, cardiovascular and skeletal systems. Gene defect has been mapped to a region on chromosome 15 that codes for fibrillin which plays an important role for providing structure for connective tissues. |
Marfan's syndrome, autosomal dominant.
Diagnosed based on clinical findings though since homocystinuria has many same clinical features, tests to rule out homocystinuria must be done. Complications include: endocarditis, retinal detachment and sudden death due to aortic dissection. HTN and chest trauma increase dissection risk. The overall risk is reduced with beta-blocker meds and avoidance of contact sports. Endocarditis prophylaxis and regular opthalmologic exams are also recommended. BRS 121 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Skeletal findings include tall stature with elongated extremities and long fingers (arachnodactyly), joint laxity, chest wall deformities (pectus excavatum) and scoliosis or kyphosis. Decreased upper to lower segment ratios. Ocular findings include UPWARD lens subluxation. Cardiovascular findings include aortic root dilation, mitral valve prolapse, and aortic regurgitation. |
Marfan's syndrome, autosomal dominant.
Diagnosed based on clinical findings though since homocystinuria has many same clinical features, tests to rule out homocystinuria must be done. Complications include: endocarditis, retinal detachment and sudden death due to aortic dissection. HTN and chest trauma increase dissection risk. The overall risk is reduced with beta-blocker meds and avoidance of contact sports. Endocarditis prophylaxis and regular opthalmologic exams are also recommended. BRS 121 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Is caused by absence of a region on the paternally derived chromosome 15. |
Prader-Willi syndrome, genomic imprinting
Diagnosed based on FISH probes. Complications include: - in infancy: hypotonia leads to poor sucking, feeding probs and developmental delay - in childhood: obesity can lead to obstructive sleep apnea - in adulthood: obesity can lead to cardiac disease and type 2 DM. Psychiatric illnesses can also be present. BRS 122 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Almond shaped eyes and downturned fishlike mouth. Failure to thrive in first year of life followed by hyperphagia in childhood resulting in obesity. Short stature and small hands and feet. Hypotonia most pronounced during the newborn period, mental retardation, learning disabilities, behavioral probs. Hypogonadism manifesting as small penis, small testes, or cryptorchidism. |
Prader-Willi syndrome, genomic imprinting
Diagnosed based on FISH probes. Complications include: - in infancy: hypotonia leads to poor sucking, feeding probs and developmental delay - in childhood: obesity can lead to obstructive sleep apnea - in adulthood: obesity can lead to cardiac disease and type 2 DM. Psychiatric illnesses can also be present. BRS 122 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Is caused by absence of a region on the maternally derived chromosome 15. |
Angelman syndrome (aka "happy puppet" syndrome) , because of its characteristic jerky, puppet like gait and happy demeanor with frequent laughter and smiling of affected individuals. Genomic imprinting.
Diagnosed by FISH. Complications: None, though clinical features include mental retardation that is severe. BRS 122-3 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Characteristic jerky, puppet like gait and happy demeanor with frequent laughter and smiling of affected individuals. Neurologic findings include ataxia as well. Mental retardation is severe with significant speech delay. Craniofacial findings include small wide head, large mouth with widely spaced teeth, tongue protrusion and prognathia (mandible is positioned forward to the front compared to a normal position on the skull). |
Angelman syndrome (aka "happy puppet" syndrome) , because of its characteristic jerky, puppet like gait and happy demeanor with frequent laughter and smiling of affected individuals. Genomic imprinting.
Diagnosed by FISH. Complications: None, though clinical features include mental retardation that is severe. BRS 122-3 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Clinical features are variable, but include short stature adn shielf chest, short webbed neck adn lo hairline, hypertelorism, epicanthal skin folds, downslanting palpebral fissures, low-set ears. RIGHT SIDED HEART LESIONS (most commonly pulmonary valve stenosis). Mental retardation in 25% of patients. |
Noonan syndrome, sporadic inheritance though an autosomal dominant pattern has been reported. Gene for disorder mapped to chromosome 12. Sometimes called the male version of Turner syndrome, but females can also be affected.
Diagnosis made on clinical features described. BRS 123 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Some experts support changing the name of both syndromes to CATCH -22 for Cardiac anomaly, Abnormaml facies, Thymic hypoplasia, Cleft palate, Hypocalcemia and gene defect on chromosome 22. |
Digeorge Syndrome and velocardiofacial syndrome. Both are sporadic or autosomal dominant inheritance.
DiGeorge syndrome is caused by defect in the structures derived from the third and fourth pharyngeal pouches. Cardiac abnormalities include aortic arch anomalies, VSDs, and Tetralogy of Fallot. Thyrmus and parathyroid hypoplasia caused cell mediated immunodeficiency and severe hypocalcemia also present. Diagnosis is based on FISH. Complications include infections as a result of cell-mediated immunodeficiency (DiGeorge is a primarily T-cell deficiency dz) and seizures caused by hypocalcemia. Velocardiofacial syndrome. Cardiac findings include VSDs and a R sided aortic arch. Neurologic findings include neonatal hypotonia, learning disabilities and perseverative behaviors. BRS 123-4 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Cardiac abnormalities include aortic arch anomalies, VSDs, and Tetralogy of Fallot. Thyrmus and parathyroid hypoplasia caused cell mediated immunodeficiency and severe hypocalcemia also present. Diagnosis is based on FISH. Complications include infections as a result of cell-mediated immunodeficiency (this is a primarily T-cell deficiency dz) and seizures caused by hypocalcemia. |
DiGeorge syndrome, sporadic or autosomal dominant.
Some experts support changing the name of both this and velocardiofacial syndrome to CATCH -22 for Cardiac anomaly, Abnormaml facies, Thymic hypoplasia, Cleft palate, Hypocalcemia and gene defect on chromosome 22. BRS 123-4 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Cardiac findings include VSDs and a R sided aortic arch. Neurologic findings include neonatal hypotonia, learning disabilities and perseverative behaviors. Some experts support changing the name of both syndromes to CATCH -22. |
Velocardiofacial syndrome. Sporadic or autosomal dominant inheritance.
Some experts support changing the name of both this and DiGeorge syndrome to CATCH -22 for Cardiac anomaly, Abnormaml facies, Thymic hypoplasia, Cleft palate, Hypocalcemia and gene defect on chromosome 22. BRS 123-4 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Complications include infections as a result of cell-mediated immunodeficiency (this is a primarily T-cell deficiency dz) and seizures caused by hypocalcemia. |
DiGeorge syndrome, sporadic or autosomal dominant., is caused by defect in the structures derived from the third and fourth pharyngeal pouches. Cardiac abnormalities include aortic arch anomalies, VSDs, and Tetralogy of Fallot. Thyrmus and parathyroid hypoplasia caused cell mediated immunodeficiency and severe hypocalcemia also present. Diagnosis is based on FISH. Complications include infections as a result of cell-mediated immunodeficiency (DiGeorge is a primarily T-cell deficiency dz) and seizures caused by hypocalcemia.
BRS 123-4 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Is characterized by production of defective type V collagen (mostly interstitial tissue components), resulting in hyperextensible joints, fragile vessels, and loose skin. |
Ehlers-Danlos syndrome, autosomal dominant inheritance.
MSK findings include: soft, velvety, textured, loose fragile skin. Minor lacerations result in large wounds that heal poorly with broad, atrophic, tissue paper thin scars. Cardiovascular findings include mitral valve prolapse, aortic root dilatation, and fragile blood vessels that result in ease of bruising. GI features include constipation, rectal prolapse, and hernias. Diagnose based on clinical findings. Complications are aortic dissection adn GI bleeding as result of blood vessel fragility. BRS 124 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
MSK findings include: soft, velvety, textured, loose fragile skin. Minor lacerations result in large wounds that heal poorly with broad, atrophic, tissue paper thin scars. Cardiovascular findings include mitral valve prolapse, aortic root dilatation, and fragile blood vessels that result in ease of bruising. GI features include constipation, rectal prolapse, and hernias. |
Ehlers-Danlos syndrome, autosomal dominant inheritance.
Diagnose based on clinical findings. Complications are aortic dissection adn GI bleeding as result of blood vessel fragility. BRS 124 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Results from mutations that produce abnormal type I collagen (loose dense connective tissues, fibrocartilage, bone, dentin). |
Osteogenesis imperfecta
Blue sclerae, fragile bones resulting in frequent fractures, genu valgum (knocked-kneed), scoliosis or kyphosis, joint laxity, osteoporosis or osteopenia. Yellow or gray-blue teeth, easy bruisability. Diagnosis is based on clinical features and decreased type I collagen synthesis in fibroblasts. Complications include early conductive hearing loss and skeletal deformities as a result of fractures. BRS 124 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Caused by a deletion on chromosome 7, and is most notable for hte unique loquacious personality often described as a "cocktail party" personality. Elfin facies present with mental retardation. Supravalvular aortic stenosis, and connective tissue abnormalities that include hoarse voice and hernias. In infancy tend to have idiopathic hypercalcemia. |
Williams syndrome, autosomal dominant.
Diagnosis based on FISH. BRS 125 |
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Of the common genetic disorders, which is described here? State the inheritance pattern, how it is diagnosed, and complications.
Most noteable for a single eyebrow (synophrys) and very short stature without skeletal abnormalities. Curly eyelashes, microcephaly, thin down turned upper lip and micrognathia. Infantile HYPERTONIA, mental retardation. Small for gestational age and Failure to Thrive common. Small hands and feet, cardiac defects, behavioral findings including autistic features, self-destructive tendencies. |
Cornelia de Lange syndrome. Mostly sporadic though autosomal dominant can occur.
Diagnosis based on clinical features described. BRS 125-6 |
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Down syndrome is the most common trisomy syndrome. What is the second most common trisomy syndrome?
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Trisomy 18, or Edward Syndrome! 3x more common in females.
Clinical features of Trisomy 18: Delicate small facial features. Mental retardation, HYPERTONIA, SCISSORING OF THE LOWER EXTREMITIES. Clenched hands with overlapping digits, ROCKER BOTTOM FEET. Diagnosis: based on chromosomal analysis. Prognosis is poor as most die within first year of life. BRS 126-7 |
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Which trisomy is associated with midline defects, particularly of face and forebrain such that clinical features include holoprosencephaly, microcephaly, seizures, and severe MR. Ocular findings include micropthalmia, retinal dysplasia , colobomas and rarely, a single eye. Cleft lip and palate are also noted.
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Trisomy 13 is described.
Diagnosis is based on chromosomal analysis. Prognosis is poor, with death usually occuring within the first month of life. BRS 127 |
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Which has poorer prognosis: Trisomy 13 or Trisomy 18?
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Trisomy 13, bc death occurs in first month of life. associated with midline defects, particularly of face and forebrain such that clinical features include holoprosencephaly, microcephaly, seizures, and severe MR. Ocular findings include micropthalmia, retinal dysplasia , colobomas and rarely, a single eye. Cleft lip and palate are also noted.
Trisomy 18 can sometimes make it up to one year of life. Delicate small facial features. Mental retardation, HYPERTONIA, SCISSORING OF THE LOWER EXTREMITIES. Clenched hands with overlapping digits, ROCKER BOTTOM FEET. BRS 126-7 |
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What are features of Turner syndrome?
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- short stature
- webbed neck - shield chest with scoliosis or kyphosis - swelling of dorsum of hands and feet (congenital lymphedema) can be present at birth - ovarian dysgenesis causes delayed puberty. - cardiac defects usually include left-sided heart lesions, especially coaractation fo the aorta, bicuspid heart valve and hypoplastic left heart. - hypothyroidism can occur. Diagnosis is based on clinical features and chromosomal analysis. BRS 127-8 |
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How can one tell the difference between Noonan syndrome and Turner syndrome?
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The difference is in the cardiac abnormalities!
Noonan syndrome has RIGHT SIDED cardiac abnormalities, most commonly pulmonary valve stenosis. Turner syndrome has LEFT SIDED cardiac abnormalities like coarctation of the aorta, bicuspid aortic valve, and hypoplastic left heart. BRS 128 |
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What syndrome is described?
Mild to severe mental retardation. Craniofacial findings of large ears, macrocephaly, thickened nasal bridge, large testes develop during puberty. Behavioral findings include emotional instability, autistic features and ADHD. As disorder passes from generation to generation, there is an increase in syndrome severity. |
Fragile X syndrome, X-linked disorder caused by variable number of CGG repeats at a particular site. Is an example of anticipation (worsening through generations).
BRS 128 |
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This syndrome if the most common cause of male hypogonadism and infertility.
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Klinefelter syndrome, XXY genotype. Risk increases with advancing maternal age.
Tall stature with long extremities, hypogonadism, including small penis and testes, delayed puberty owing to lack of testosterone, and infertility. Gynecomastia can be seen. Variable intelligance can be seen. Behavioral findings inclnude antisocial behavior and excessive shyness or aggression. Diagnosis based on chromosomal analysis. BRS 128 |
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With regards to skeletal dysplasias, classification is based on location of the bone abnormality or shortening. What do the following each refer to?
A. acromelia B. mesomelia C. rhizomelia D. spondylodysplasias |
A. acromelia = distal abnormalities (small hands and feet)
B. mesomelia = medial long bone abnormalities (short ulna and tibia) C. rhizomelia = proximal long bone abnormaliteis (short humerus and femur) BRS 128 D. spondylodysplasias |
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Achondroplasia is the most common skeletal dysplasia and is characterized by [ acromelia / mesomelia / rhizomelia]. Inheritance is of two types, name em. Incidence increases with advancing [ maternal / paternal ] age. What are some complications (hint: foramen magnum stenosis)?
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Achondroplasia is characterized by RHIZOMELIA (proximal long bone abnormalities like short humerus and femur). Inheritance is autosomal dominant though most are also sporadic. Increases with advancing paternal age.
Complications include: - Foramen magnum stenosis can lead to hydrocephalus or cord compression. Head sweating and dilated facial veins can be subtle signs of cord compresison. Sudden infant death can occur because of cord compression! - Obstructive sleep apnea and respiratory compromise can occur from foramen magnum narrowing and upper airway obstruction. - Orthopedic problems like severely bowed legs (genu varum) and back pain can occur. BRS 129 |
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What is Potter syndrome and what is it caused by?
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Potter syndrome is caused by severe oligohydramnios which in turn causes :
- lung hypoplasia - fetal compression with limb abnormlaities and facial features termed Potter facies Severe oligo can occur from amniotic leak or intrauterine renal failure caused by bilateral renal agenesis, polycystic kidneys or obstructive uropathy. BRS 129 |
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Fetal alcohol syndrome is caused by alcohol, the most common teratogen. Features include (7, name em).
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- small for gestational age at birth
- FTT - microcphaly - long smooth philtrum with thin smooth upper lip - mental retardation - ADHD - cardiac defects (VSD is most common) BRS 129 |
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Individually, inborn errors of metabolism diseases area rare but collectively, the overall incidence is ~ 1:5,000 births. General symptoms are lethargy, poor feeding or failure to thrive, and sometimes unusual odors.
What do the following odors usually indicate? A. mousey/musty odor B. rotten cabbage C. sweet maple syrup |
A. mousey/musty odor = PKU
B. rotten cabbage = hereditary tyrosinemia C. sweet maple syrup = maple syrup urine dz BRS 132 |
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This inborn error of metabolism shares a lot of characteristics with Marfan syndrome but does have some differences:
- Marfanoid body habitus WITHOUT arachnodactyly - DOWNWARD lens subluxation - hypercoagulable state (increased risk of stroke, MI, DVTs) - cardiovascular abnormalities are present but DO NOT INCLUDE aortic dilation as in Marfan syndrome. Instead, mitral or aortic regurgitation is present. - Scoliosis, and large, stiff joints. - developmental delay, mild mental retardation and psychiatric illnesses - |
Homocystinuria
Diagnosis is by finding increased methionine in urine and plasma. Management: methionine-restricted diet, aspirin to decrease risk of thromboembolism, and folic acnd and Vit B6 supplementation. BRS 133-134 |
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Cystinuria is an autoosmal recessive disorder caused by defects in renal reabsorption of cystine, lysine, arginine and ornithine that leads to _________. Clinical features can include....
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renal stones ; leads to UTIs, dysuria, abdominal or back pain, urgency, and urinary frequency.
BRS 135 |
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________________ is the most common urea cycle defect. Inheritence is X-linked recessive. Clinical features begin at protein ingestion and include vomiting and lethargy leading to coma. How do you diagnose this and what is the management?
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Ornithine transcarbamylase deficiency.
Diagnose based on elevated urine orotxi acid, decreased serum cirtulline, and increased ornithine or liver biopsy. Management includes a low-protein diet and managemetn of hyperammonemia. Liver transplant can be necessary. BRS 135 |
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This inborn error of metabolism should be suspected in any newborn with hepatomegaly and hypoglycemia.
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Galactosemia.
Clinical features begin after ingetsion of cow's milk formula OR breastmilk as both have galactose : - vomiting, diarrhea, FTT - hepatic dysfunction with hepatomegaly - cataracts with carachteristic oil-droplet appearance - renal tubular acidosis Diagnose: by non-glucose reducing substance in urine. Confirmation of enzyme deficiency in RBCs. Management: is galactose free diet, such as soy or elemental formulas. Prognosis is good with normal intelligence if the disorder is treated early. Death in early infancy from E.coli sepsis is common if diagnosis is not made early on. BRS 136 |
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Which inborn error of metabolism is described?
Management is soy or elemental formula diet. Prognosis is good with normal intelligence if the disorder is treated early. Death in early infancy from E.coli sepsis is common if diagnosis is not made early on. |
Galactosemia!
BRS 136 |
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What type of inborn error of metabolism are characterized by organomegaly and metabolic acidosis?
A. Galactosemia B. Hereditary fructose intolerance C. Glycogen storage diseases (Von Gierke's, or Type I ; Pompe's dz or Type II) |
C. Glycogen storage diseases (Von Gierke's, or Type I ; Pompe's dz or Type II)
BRS 136 |
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Tay-Sachs disease is an autosomal recessive disorder caused by hexosaminidase A deficiency. There is an infantile and juvenile/adult onset dz. Describe the findings of both.
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Infantile onset: decreasing eye contact, hypotonia, mild motor weakness, increased startel as a result of HYPERACUSIS. MACROCEPHALY, CHERRY-RED MACULA, progressive blindness, seizures and SEVERE DEVELOPMENTAL DELAY. Death usually occurs by 4 yrs old.
Juvenile/adult onset begins after 2 years of age or in early adulthood. Ataxia, dysarthria, choreoathetosis. Cherry-red macula is absent. Pts degenerate into a chronic debilitated state. BRS 137 |
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Wilson's dz is an autosomal recessive defect in copper excretion that causes copper deposition initially in the liver, followed by the brain, eyes and heart. Clinical features can develop between 2 to 50 years of age. How do you diagnose it? What is the management?
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Clinical features are Kayser-Fleischer rings, neuroloic findings like behavior changes, dystonia, dysarthria, tremors, ataxia dn seizures, hepatic dysfunction.
Diagnose: decreased serum ceruloplasmin to screen. Then test for elevated serum and urine copper. Management is avoiding copper-containgin food (nuts, liver, shellfish, choclate), chelation therapy with oral penicillamine and sometimes liver transplant. BRS 139 |
