ENGLISH

X-Linked Mental Retardation

By Roger E. Stevenson , Charles E. Schwartz , Richard J. Schroer

Book information

Publisher
Oxford University Press, USA
Year
1999
ISBN
0195129814, 9780195129816
LCC
RC574 .S77 2000
Open Library ID
OL32726M
Language
english
Format
PDF
Filesize
29 MB (30756737 bytes)
Series
Oxford Monographs on Medical Genetics
Edition
1
Pages
440\439
Topic
Biology Genetics
Time added
2011-04-28 18:43:47

Description

This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. 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. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed. X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.

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