Article
15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
American journal of medical genetics. Part A - 1 Feb 2009
Tatton-Brown Katrina, Pilz Daniela T, Orstavik Karen Helene, Patton Michael, Barber John C K, Collinson Morag N, Maloney Vivienne K, Huang Shuwen, Crolla John A, Marks Karen, Ormerod Eli, Thompson Peter, Nawaz Zafar, Lese-Martin Christa, Tomkins Susan, Waits Paula, Rahman Nazneen, McEntagart Meriel
Abstract excerpt
Trisomy and tetrasomy of distal chromosome 15q have rarely been reported. Although most of the described patients have some learning difficulties and are overgrown, the phenotype associated with distal trisomy/tetrasomy 15q is uncertain due to the small numbers of reported cases and the common co-occurrence of additional chromosome deletions in many patients with trisomy 15q. We present five individuals with...
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