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Klinefelter's syndrome in Sardinia
Author(s) -
Filippi G.
Publication year - 1986
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.1399-0004.1986.tb00607.x
Subject(s) - karyotype , klinefelter syndrome , sex chromatin , biology , buccal swab , population , x chromosome , physiology , genetics , gynecology , chromosome , endocrinology , medicine , environmental health , gene
265 hypogonadic Sardinian males, ascertained through military records of 600,000 conscripts approximately over the last thirty‐seven years, were screened for their sex chromatin phenotype by buccal mucosa smears and for their karyotypes from peripheral blood lymphocyte cultures. 158 (59.4%) showed a XXY karyotype without mosaicismo, 5 XX and 1 XXYY karyotypes. Seven sex chromatin negative males had Kallmann's syndrome. This report summarizes the genetic and clinical data recorded in this population sample as opposed to those reported from fertility clinics.
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