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Association of the X chromosomal region q11→22 and Klinefelter syndrome
Author(s) -
Patil Shivanand R.,
Bartley James A.,
Hanson James W.
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.tb00721.x
Subject(s) - klinefelter syndrome , genetics , x chromosome , chromosome , biology , phenotype , gene , endocrinology
A male patient with typical Klinefelter syndrome features was found to have a 47, XXq‐Y chromosome complement. The X chromosome with the deletion was late‐replicating. We suggest that the region q11→22 of the extra X chromosome is important for expression of the Klinefelter phenotype.