Premium
The recognition and investigation of X‐linked learning disability syndromes
Author(s) -
Feldman E. J.
Publication year - 1996
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1046/j.1365-2788.1996.797797.x
Subject(s) - learning disability , x chromosome , fragile x syndrome , intellectual disability , learning disabled , psychology , genetic counseling , medicine , genetics , gene , psychiatry , biology
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 abnormaiities, and collaborate with clinical geneticists and laboratory scientists working on X chromosome gene mapping.