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FRAGILE X‐LINKED MENTAL RETARDATION: THE MARTIN‐BELL SYNDROME
Author(s) -
RICHARDS B. W.,
SYLVESTER P. E.,
BROOKER CAROL
Publication year - 1981
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 - 10.1111/j.1365-2788.1981.tb00115.x
Subject(s) - fragile x , psychology , fragile x syndrome , psychiatry , genetics , biology , gene
Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome. Some also display the typical facial appearance associated with this anomaly, and some have macro-orchidism. It is proposed that the condition should be designated "The Martin-Bell syndrome."