Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11)
Identifieur interne : 010901 ( Main/Merge ); précédent : 010900; suivant : 010902Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11)
Auteurs : F. G. Cassorla [États-Unis] ; B S. Emanuel [États-Unis] ; J. S. Parks [États-Unis] ; C. H. Wu [États-Unis] ; J. E. Wheeler [États-Unis] ; A. Tenore [États-Unis]Source :
- Clinical Genetics [ 0009-9163 ] ; 1981-05.
Abstract
A 23‐year‐old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult male range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45, XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45, X, t(Y;18) (p11;p11) karyotype in peripheral blood. Cultures of gonadal tissue revealed 45, X, t(Y;18)/46, XY mosaicism.
Url:
DOI: 10.1111/j.1399-0004.1981.tb00717.x
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<author><name sortKey="Wheeler, J E" sort="Wheeler, J E" uniqKey="Wheeler J" first="J. E." last="Wheeler">J. E. Wheeler</name>
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<front><div type="abstract" xml:lang="en">A 23‐year‐old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult male range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45, XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45, X, t(Y;18) (p11;p11) karyotype in peripheral blood. Cultures of gonadal tissue revealed 45, X, t(Y;18)/46, XY mosaicism.</div>
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