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IDENTIFICATION OF THE Y CHROMOSOME BY THE FLUORESCENCE TECHNIQUE IN AN XY/X0 GONADAL DYSGENESIS
Author(s) -
SEVERI FRANCESCA,
TIEPOLO L.,
SCAPPATICCI SUSI
Publication year - 1971
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1971.tb07014.x
Subject(s) - y chromosome , x chromosome , medicine , gonadal dysgenesis , chromosome , karyotype , hypoplasia , genetics , anatomy , biology , gene
Summary A phenotypic female aged 16 years had sexual hypoplasia, streak gonads and sex chromosome mosaicism. She was XY in peripheral blood cultures and XY/X0 in Fallopian tube tissue and in skin cultures. A definite identification of the XY line was made by the fluorescence technique which showed a fluorescent section corresponding to the distal segment of the long arm of one of the five achrocentrics.