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14 Cards in this Set
- Front
- Back
Tripoidy
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Eupoidy
Three complete sets of chromosomes multiple malformations, large cystic placenta, Hydatidiform mole |
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Down Syndrome
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Aneupolidy
Trisomy 21 mental retardation, multiple malformations, congenital heart disease |
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Edwards Syndrome
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Aneuploidy
Trisomy 18 mental retardation, multiple malformations, 2nd digit overlaps the 1st infant mortality |
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Patau Syndrome
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Aneuploidy
Trisomy 13 Mental retardation, multiple malformations, central facial defects Infant mortality |
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Turner Syndrome
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Aneuploidy
XO, 50% partial monosomies of short arm of X undeveloped secondary female characteristics fetal lymphoma |
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Klinefelter Syndrome
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Aneuploidy
XXY feminized male |
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47 XYY Syndrome
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Aneuploidy
little to no malformations ADHD |
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47 XXX Syndrome
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Aneuploidy
little to no malformations |
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Cri du Chat
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Aberration
Deletion (5p)- short arm of chromosome 5 mental retardation, multiple malformations, cat like cry |
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Chronic Myelogenous Leukemia
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Aberration- translocation
Philadelphia Chromosome |
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Burkitt Lymphoma
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Aberration- translocation
c-myc |
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46 XY Females
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Aberration- deletion X
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46 XX Males
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Aberration- insertion Y
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Prader- Willi Syndrome
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Microdeletion- epigenic imprinting
paternal deletion, band 15q11-q13 metal retardation, behavioral abnormailites, obesity |