Long arm deletion of the X chromosome, 46,X,del(X)(q21), associated with gonadoblastoma

Summary A 28-year-old woman with short stature was found to have bilateral gonadoblastoma in the dysgenetic ovaries. Chromosome banding analysis of her cultured blood cells and skin fibroblasts revealed a terminal deletion of the long arm of the X chromosome, 46,X,del(X)(q21), as the sole karyotypic...

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Veröffentlicht in:	Japanese journal of human genetics 1981-12, Vol.26 (4), p.307-312
Hauptverfasser:	Seki, Toshio, Fujimoto, Seiichiro, Abe, Syuiti, Sasaki, Motomichi, Kawaguchi, Isao, Kikukawa, Hiroshi, Kikuchi, Yuko, Ichinoe, Kihyoe
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biomedical and Life Sciences Biomedicine Chromosome Deletion Chromosomes, Human - ultrastructure Dysgerminoma - genetics Female Gene Expression Gene Function Gene Therapy Human Genetics Humans Karyotyping Molecular Medicine original-article Sex Chromosome Aberrations - genetics X Chromosome
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Zusammenfassung:	Summary A 28-year-old woman with short stature was found to have bilateral gonadoblastoma in the dysgenetic ovaries. Chromosome banding analysis of her cultured blood cells and skin fibroblasts revealed a terminal deletion of the long arm of the X chromosome, 46,X,del(X)(q21), as the sole karyotypic anomaly. None of the Xq- patients so far reported were associated with gonadoblastoma.
ISSN:	1434-5161 0021-5074 0916-8478 1435-232X
DOI:	10.1007/BF01876362