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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O.: A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. AJMG 140A: 40-45, 2006. [PubMed: 16333824]46,X,inv(Y)(p11.31q12).,Father=mos46,XY/46,X,del(Y)(q12.2)/46,X,fra(Y)(q12.2)etc.The 17 year old was referred for primary amenorrhea, underdeveloped breasts, and abdominal pain. She underwent laparotomy.The Yp breakpoint is localized on a segmental duplication named DC0977 and disrupts a gene named CD99 (MIC2).Aberration: Inversion pericentricIndex Terms: Gonadoblastoma
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- 0Yp1131 - Chromosomal Variation in Man0Yp1131 - Chromosomal Variation in Man
- LOC572418 [Danio rerio]LOC572418 [Danio rerio]Gene ID:572418Gene
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