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Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

Abstract:

During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 a...

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Journal:
American journal of human genetics
Volume:
55
Issue:
5
Pages:
923-931
Publication date:
1994-11-05
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:b9dd60da-19cf-4d4a-9b9e-af5eaf2bb688
Source identifiers:
250365
Local pid:
pubs:250365

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