Article
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
American journal of medical genetics. Part A - 1 Jun 2008
Swinkels Mariëlle E M, Simons Annet, Smeets Dominique F, Vissers Lisenka E, Veltman Joris A, Pfundt Rolph, de Vries Bert B A, Faas Brigitte H W, Schrander-Stumpel Connie T R M, McCann Emma, Sweeney Elizabeth, May Paul, Draaisma Jos M, Knoers Nine V, van Kessel Ad Geurts, van Ravenswaaij-Arts Conny M A
Abstract excerpt
The deletion 9p syndrome is caused by a constitutional monosomy of part of the short arm of chromosome 9. It is clinically characterized by dysmorphic facial features (trigonocephaly, midface hypoplasia, and long philtrum), hypotonia and mental retardation. Deletion 9p is known to be heterogeneous and exhibits variable deletion sizes. The critical region for a consensus phenotype has been reported to be located...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.