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Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality
Author(s) -
Anglani Franca,
Baccichetti Carlo,
Artifoni Lina,
Lenzini Elisabetta,
Tenconi Romano
Publication year - 1984
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.1399-0004.1984.tb01984.x
Subject(s) - abnormality , karyotype , chromosome abnormality , turner syndrome , short stature , chromosomal abnormality , etiology , chromosome , pediatrics , medicine , gynecology , biology , genetics , pathology , psychiatry , gene
Cytogenetic investigation was carried out on 231 female patients referred for suspected sex chromosome abnormality. Cases were classified into five groups according to reason for referral and chromosome abnormality frequency was estimated. The overall frequency of abnormal karyotypes was 38.5%. The rate of positive identification of chromosome abnormality ranges from 0 in patients with secondary amenorrhoea to 80% in those with Turner phenotype. Our data demonstrate that the indications for referral of female patients with suspected sex chromosome abnormality are not only primary amenorrhoea alone or short stature and primary amenorrhoea without Turner stigmata, but also short stature of unknown etiology without any additional anomaly during childhood.