Ontology highlight
ABSTRACT:
SUBMITTER: Masuno M
PROVIDER: S-EPMC1051130 | biostudies-other | 1997 Nov
REPOSITORIES: biostudies-other
Masuno M M Imaizumi K K Fukushima Y Y Tanaka Y Y Ishii T T Nakamura M M Kuroki Y Y
Journal of medical genetics 19971101 11
We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;q11.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip, pedunculated skin mass(es) on the face, and midline lipoma(s) of the central nervous system. The cause of this syndrome is unknown, although autosomal dominant inheritance has been proposed. The trans ...[more]