Makindo Medical Notes"One small step for man, one large step for Makindo" |
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Related Subjects: | Osteoporosis | Autosomal Dominant | Autosomal Recessive | X Linked Recessive |Dementias |Chromosomal Defects |Turner's syndrome (Children) |Down's syndrome (Children)
Disorder | Genetic Cause | Incidence | Key Features | Additional Info |
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Down Syndrome (Trisomy 21) | Trisomy 21 (extra chromosome 21) | ~1 in 700 births |
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Turner Syndrome (45, X0) | Monosomy X (missing one X chromosome) | ~1 in 2500 female births |
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Klinefelter Syndrome (47, XXY) | Extra X chromosome (XXY karyotype) | ~1 in 650 male births |
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Williams Syndrome (7q11.23 Deletion) | Deletion at 7q11.23 | ~1 in 10,000 births |
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Angelman Syndrome (15q11-q13 Deletion / Maternal) | Maternal deletion at 15q11-q13 | ~1 in 12,000–20,000 births |
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Prader-Willi Syndrome (15q11-q13 Deletion / Paternal) | Paternal deletion at 15q11-q13 | ~1 in 10,000–30,000 births |
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DiGeorge Syndrome (22q11.2 Deletion) | Deletion at 22q11.2 | ~1 in 4000 births |
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Edwards Syndrome (Trisomy 18) | Trisomy 18 (extra chromosome 18) | ~1 in 6000 births |
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Patau Syndrome (Trisomy 13) | Trisomy 13 (extra chromosome 13) | ~1 in 10,000 births |
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