Article
Delineation of two distinct 6p deletion syndromes.
Human genetics - 1 Jan 1999
Davies A F, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J
Abstract excerpt
Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.