Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).

摘要: We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;q11.2), in 13 year old girl with median cleft of the upper lip, pedunculated skin masses on nasal septum, short stature, and mental retardation. Pai syndrome is characterised by mass(es) face, midline lipoma(s) central nervous system. The cause this unknown, although autosomal dominant inheritance has been proposed. translocation breakpoints present patient may be candidate regions for gene responsible lip including syndrome.