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15 Cards in this Set
- Front
- Back
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Turner (45X)
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Infertility
Short, neck web, ear protrude, low hairline RENAL defects Lymphatic malformation Coarctation/cardiac defects |
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Klinefelter's (47XXY)
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Infertility
Testicular atrophy, gynecomastia Marfanoid habitus Retardation, psychosocial defect |
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47 XYY
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Tall, ACNE
Retardation (mild) |
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47 XXX
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often asymptomatic
SMALL HEAD Retardation (mild) Menstrual abnormality |
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Trisomy 21
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1/700
Protruding tongue, flat nose, small ears Simian crease CERVICAL instability Cardiac defects GI defects (atresia, Hirschsprung, Celiac, annular pancreas) Nuchal translucency High risk of ALL |
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Trisomy 18 (Edward)
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1/6000
MICROGNATHIA ROCKER-bottom, finger OVERLAP Cardiac/GI defects Fatal within 1 year |
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Trisomy 13 (Patau)
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1/5000
CLEFT lip/palate POLYDACTYLY Cardiac/CNS defects Fatal within 1 year |
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Fragile X
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Mental retardation (males)
CGG repeats on X-terminus |
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Cri du chat
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<<chromosome 5 deletion>>
Small head, LBW Mental retardation |
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Wolf-Hirschhorn
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<<chromosome 4p deletion>>
Cranial asymmetry, microcephaly SEIZURES Mental retardation |
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Prader-Willi
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Inherited from father
Obesity, muscle HYPOTONIA Small hands/feet Mental retardation |
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Angelman
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Inherited from mother
Happy puppet (ataxia) SEIZURES Mental retardation |
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Velocardiofacial
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Cleft palate, overbite
Cardiac defect DIGEORGE association Mental retardation (mild) |
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WAGR
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<<chromosome 11 deletion>>
Wilm's tumor Aniridia (no iris) Genital defects Retardation |
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William's
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Happy elf (ELFIN facies)
Mental retardation |
