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Pallister–Killian syndrome
Pallister–Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an extremely rare genetic disorder occurring in humans. Pallister-Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome. This leads to the development of tetrasomy 12p. Because not all cells have the extra isochromosome, Pallister-Killian is a mosaic condition.
It was first described by Philip Pallister in 1977 and further researched by Maria Teschler-Nicola and Wolfgang Killian in 1981.
==Characteristics==
Characteristics include varying degrees of developmental disability, epilepsy, hypotonia, and both hypopigmentation and hyperpigmentation. Patients also exhibit a distinctive facial structure, characterized by high foreheads, sparse hair on the temple, a wide space between the eyes, epicanthal folds, and a flat nose. Vision and hearing impairments may occur. Patients may also exhibit congenital heart defects, gastroesophageal reflux, cataracts, and supernumerary nipples. Diaphragm problems seen in newborns can lead to death shortly after birth.
As patients pass into adolescence, the syndrome is characterized by a coarse and flat face, macroglossia prognathia, inverted lower lip, and psychomotor retardation with muscular hypertonia and contractures.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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