Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11)
Identifieur interne : 00F981 ( Main/Exploration ); précédent : 00F980; suivant : 00F982Cytogenetic 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
Affiliations:
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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></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li><li>Pennsylvanie</li></region></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Cassorla, F G" sort="Cassorla, F G" uniqKey="Cassorla F" first="F. G." last="Cassorla">F. G. Cassorla</name></region><name sortKey="Cassorla, F G" sort="Cassorla, F G" uniqKey="Cassorla F" first="F. G." last="Cassorla">F. G. Cassorla</name><name sortKey="Emanuel, B S" sort="Emanuel, B S" uniqKey="Emanuel B" first="B S." last="Emanuel">B S. Emanuel</name><name sortKey="Parks, J S" sort="Parks, J S" uniqKey="Parks J" first="J. S." last="Parks">J. S. Parks</name><name sortKey="Tenore, A" sort="Tenore, A" uniqKey="Tenore A" first="A." last="Tenore">A. Tenore</name><name sortKey="Wheeler, J E" sort="Wheeler, J E" uniqKey="Wheeler J" first="J. E." last="Wheeler">J. E. Wheeler</name><name sortKey="Wu, C H" sort="Wu, C H" uniqKey="Wu C" first="C. H." last="Wu">C. H. Wu</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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