Article
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
Journal of medical genetics - 1 Nov 2011
Sarasua Sara M, Dwivedi Alka, Boccuto Luigi, Rollins Jonathan D, Chen Chin-Fu, Rogers R Curtis, Phelan Katy, DuPont Barbara R, Collins Julianne S
Abstract excerpt
BACKGROUND: The clinical features of Phelan-McDermid syndrome (also known as 22q13 deletion syndrome) are highly variable and include hypotonia, speech and other developmental delays, autistic traits and mildly dysmorphic features. Patient deletion sizes are also highly variable, prompting this genotype-phenotype association study. METHODS: Terminal deletion breakpoints were identified for 71 individuals in a...
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