Chromosomal Abnormalities
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Chromosomal Abnormalities conditions
Angelman SyndromeAngelman Syndrome is a neurogenetic disorder caused by UBE3A gene loss, characterized by severe developmental delay, ataxia, and a happy demeanor.Cri-du-chat SyndromeCri-du-chat syndrome is a genetic disorder caused by deletion on chromosome 5p, characterized by a distinctive cat-like cry and developmental delays.Down Syndrome (Trisomy 21)Down Syndrome (Trisomy 21) is a genetic disorder caused by an extra chromosome 21, characterized by intellectual disability and distinctive facial features.Edwards Syndrome (Trisomy 18)Edwards Syndrome (Trisomy 18) is a chromosomal disorder causing severe developmental delays and characteristic clenched hands, often diagnosed prenatally or at birth.Fragile X SyndromeFragile X Syndrome is a genetic disorder caused by FMR1 gene mutation leading to intellectual disability, behavioral challenges, and distinctive facial features.Patau Syndrome (Trisomy 13)Patau Syndrome (Trisomy 13) is a genetic disorder caused by an extra chromosome 13, leading to severe intellectual disability and multiple congenital anomalies.Prader-Willi SyndromePrader-Willi Syndrome is a genetic disorder caused by paternal 15q11-q13 deletion, characterized by hypotonia, hyperphagia, and developmental delays.Rett SyndromeRett Syndrome is a neurodevelopmental disorder caused by MECP2 mutations, characterized by loss of purposeful hand skills and distinctive hand-wringing movements.Williams SyndromeWilliams Syndrome is a genetic disorder caused by a deletion on chromosome 7, characterized by distinctive facial features, cardiovascular issues, and strong social personality.