Article
Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.
European journal of medical genetics - 1 Jan 2000
Willemsen Marjolein H, de Leeuw Nicole, Pfundt Rolph, de Vries Bert B A, Kleefstra Tjitske
Abstract excerpt
Clinical and molecular characteristics of two patients with a 6.75Mb overlapping interstitial deletion in the 8p12p21 region are described and compared with previously reported cases with an overlapping deletion. The most common characteristics of interstitial deletions of proximal 8p are developmental delay, postnatal microcephaly and growth retardation. Other frequently reported findings are hypogonadism...
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