Atlas of X-Linked Intellectual Disability Syndromes

Atlas of X-Linked Intellectual Disability Syndromes

Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers

Print publication date: Nov 2011

ISBN: 9780199811793

Publisher: Oxford University Press

Abstract

The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive summary of the clinically distinctive disorders caused by genes on the X chromosome. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. Individual syndrome entries are supplemented with nineteen appendices that identify syndromes with common features and provide the location or mapping limits and function of the responsible genes.

Table of Contents