Article
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Human genetics - 1 Oct 2009
El-Hattab Ayman W, Smolarek Teresa A, Walker Martha E, Schorry Elizabeth K, Immken LaDonna L, Patel Gayle, Abbott Mary-Alice, Lanpher Brendan C, Ou Zhishuo, Kang Sung-Hae L, Patel Ankita, Scaglia Fernando, Lupski James R, Cheung Sau Wai, Stankiewicz Pawel
Abstract excerpt
We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a 15q24 microdeletion, supporting the notion that this is a recognizable syndrome. We describe a case of an ~2.6 Mb...
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