Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11) |
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| Authors: | F. G. Cassorla B s. Emanuel J. S. Parks C. H. Wu J. E. Wheeler A. Tenore |
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| Affiliation: | Departments of Pediatrics University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A;Departments of Obstetrics and Gynecology University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A;Departments of Pathology, University of Pennsylvania, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A |
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| 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. |
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| Keywords: | Dysgerminoma gonadoblastoma mental retardation multiple congenital anomalies 18p- syndrome tetralogy of Fallot XY gonadal dysgenesis Y-autosome translocation |
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