Article
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
American journal of medical genetics. Part A - 1 Apr 2016
Grams Sarah E, Argiropoulos Bob, Lines Matthew, Chakraborty Pranesh, Mcgowan-Jordan Jean, Geraghty Michael T, Tsang Marilyn, Eswara Marthand, Tezcan Kamer, Adams Kelly L, Linck Leesa, Himes Patricia, Kostiner Dana, Zand Dina J, Stalker Heather, Driscoll Daniel J, Huang Taosheng, Rosenfeld Jill A, Li Xu, Chen Emily
Abstract excerpt
We report 13 new individuals with duplications in Xp11.22-p11.23. The index family has one male and two female members in three generations with mild-severe intellectual disability (ID), speech delay, dysmorphic features, early puberty, constipation, and/or hand and foot abnormalities. Affected individuals were found to have two small duplications in Xp11.22 at nucleotide position (hg19) 50,112,063-50,456,458 bp...
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