Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Ben‐Shachar, Shay; C. Lanpher, Brendan; R. German, Jennifer; M. Qasaymeh, Mohammad; Potocki, Lorraine; C. Sreenath Nagamani, Sandesh; M. Franco, Luis; D. Malphrus, Amy; W Bottenfield, G; Edward Spence, J.; Amato, Stephen; Rousseau, Justine; Moghaddam, Billur; Skinner, Cindy; A. Skinner, Steven; Bernes, Saunder; L. Armstrong, Nicole; Shinawi, Marwan; Stankiewicz, Paweł; Patel, Ankita; Cheung, SW; R. Lupski, James; L. Beaudet, Arthur; Sahoo, Trilochan

doi:10.1136/jmg.2008.064378

Public

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Published in Journal of Medical Genetics • Mar 15, 2009

Authors:

Shay Ben‐Shachar

Brendan C. Lanpher

Jennifer R. German

Abstract

BACKGROUND: Microdeletions within chromosome 15q13.3 are associated both with a recently recognised syndrome of mental retardation, seizures, and dysmorphic features, and with schizophrenia. METHODS AND RESULTS: Based on routine diagnostic testing of approximately 8200 samples using array comparativ...

Subject

Penetrance

Autism

Speech delay

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