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7 Cards in this Set
- Front
- Back
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Fragile X
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X-linked defect affecting the methylation and expression of FMR1 gene
2nd most common cause of genetic mental retardation after Down's Findings: macro-orchidism, long face with large jaw, large everted ears, autism, MVP CGG repeats |
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Down's
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Findings: mental retardation, flat facies, prominent epicanthal folds, simian crease, gap between 1st 2 toes, duodenal atresia, congenital heart disease (commmonly septum primum ASD).
Inc risk of ALL and alzheimers 95% d/t meiotic nondisjunction; 4% robertsonian translocation, 1% mosaicism |
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Edwards
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Trisomy 18
Findings: severe mental retardation, rocker-bottom feet, micrognathia, low set ears, clenches hands, prominent occiput, congenital heart disease. Death usu. in 1 year 2nd most common trisomy resulting in live birth |
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Patau's
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Trisomy 13
Findings: severe mental retardation, rocker-bottom feet, microphthalmia, microcephaly, cleft-lip/palate, holoprosencephaly, polydactyly, congential heart disease. Death usu. in 1 year |
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Cri-du-chat
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congenital microdeletion of short arm of chromosome 5
Findings: microcephaly, moderate to severe mental retardation, high-pitched crying, epicanthal folds, cardiac abnormalities |
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Williams
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congential microdeletion of long arm of ch. 7 (includes elastin gene)
Findings: distinctive elfin facies, mental retardation, hypercalcemia (inc. sensitivity to vit D), well developed verbal skills, extreme friendliness with strangers, cardiovascular problems |
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22q11 deletion
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CATCH-22
Cleft palate, abnormal facies, thymic aplasia, cardiac defects, hypocalcemia d/t pth aplasia DiGeorge Velocardiofacial synd. |
