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Familial X‐linked mental retardation and fragile X chromosomes in two Swedish families
Author(s) -
Gustavson K.H.,
Holmgren G.,
Blomquist H. Kson,
Mikkelsens M.,
Nordenson I.,
Poulsen H.,
Tommerup N.
Publication year - 1981
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1981.tb00678.x
Subject(s) - fragile x , chromosomal fragile site , x chromosome , genetics , obligate , chromosome , fragile x syndrome , mentally retarded , biology , psychology , developmental psychology , gene , ecology
X‐linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro‐orchidism, large hands and large, folded ears. In the other family, macro‐orchidism was not seen, possibly because the boys were younger. Fragile site X chromosomes were also seen in three obligate carriers. A summary of earlier published cases of X‐linked MR associated with the fragile X chromosome is given.