Article
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part A - 1 Jan 2014
Terrone Gaetano, Cappuccio Gerarda, Genesio Rita, Esposito Annalisa, Fiorentino Valeria, Riccitelli Marina, Nitsch Lucio, Brunetti-Pierri Nicola, Del Giudice Ennio
Abstract excerpt
We report on a 21-year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS). Array-CGH analysis showed a 2.89 Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included...
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