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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Produktdetaljer
ISBN
9780199771660
Publisert
2020
Utgiver
Vendor
Oxford University Press
Språk
Product language
Engelsk
Format
Product format
Digital bok