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52 Cards in this Set
- Front
- Back
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Trisomy 21 Down Syndrome
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Hypotonia
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slanted palpebral fissures
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Hyperflexibility
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Single Palmar (Simian) Crease
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Excess skin on back of neck
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Flat facial profile
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Mental retardation
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Low Fertility
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Cardiac defects
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Trisomy 21
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Chromosomal
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Nondisjunction (95%)
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Mosaicism (1%)
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Translocation (4%)
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~50% of translocations are injerited from a carrier parent (10-15% from mother and 5% from father)
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RR = 1% for mom <35
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RR = mom’s age related risk for mom >35
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RR = 100% for 21;21 translocation
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RR = 10-12% from mom & 1-5% from dad for 14;21 translocation
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Trisomy 18
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Prior to Birth
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Edward Syndrome
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Excess amniotic fluid
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intrauterine growth retardation (IUGR)
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decreased fetal activity
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1 umbilical artery
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Birth
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hypertonia
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microecphaly
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small jaw (micrognathia)
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cleft lip and/or palate
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rocker bottom feet
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Trisomy 18
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Chromosomal
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Nondisjunction
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(< 1% recurrence risk)
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Translocation (rare)
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Limited capacity for survival: 10% survive to 1st year
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Trisomy 13
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Abnormalities in midbrain & forebrain development
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Patau Syndrome
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Holoprosencephaly microencephaly
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IUGR
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microphthalmia
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micrognathia
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cleft lip/palate
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polydactyly & syndactyly
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cardiac defects
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polycystic kidney
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Trisomy 13
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Chromosomal
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Nondisjunction
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Translocation (rare)
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80% die in 1st month; 5% survive to 6 month
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RR = 100% for 13;13 translocation
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RR = 1% from mom & 1% from dad for 13;14 translocation
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