The recognition and investigation of X-linked learning disability syndromes.

E J Feldman
Author Information
  1. E J Feldman: Department of Psychiatry, University of Nottingham, England.

Abstract

X-linked learning disability syndromes occur in approximately one per 600 live male births and account for 20-30% of all learning disability. Fragile-X syndrome comprises some 40% of all X-linked learning disability, and there are currently about 95 recognized syndromes comprising the rest. Clinicians should be alert to these other forms of X-linked learning disability: families should be offered genetic counselling, including dysmorphology opinion and cytogenetic testing. Gene mapping on the X chromosome is advancing very rapidly and some causative genes for X-linked learning disability are now known. Clinicians involved in the care of patients with X-linked learning disability are encouraged to investigate all families, report new syndromes and those with cytogenetic abnormalities, and collaborate with clinical geneticists and laboratory scientists working on X chromosome gene mapping.

MeSH Term

Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 22
Female
Fragile X Syndrome
Humans
Learning Disabilities
Male
Pedigree
Phenotype
X Chromosome

Word Cloud

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