Article
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.
American journal of medical genetics. Part A - 1 Feb 2011
Misceo D, Rødningen O K, Barøy T, Sorte H, Mellembakken J R, Strømme P, Fannemel M, Frengen E
Abstract excerpt
Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to play a key role in the expression of the clinical phenotype. SHANK3 mutations have also been reported in autistic patients without a syndromic phenotype. We report on a 20-year-old woman with mental retardation carrying a de novo translocation between chromosome Xq21.33 and 22q13.33,...
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