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Titolo:
AMBIGUOUS GENITALIA IN AN ELDERLY WOMAN WITH A MOSAIC 45,X 46,X,DIC(Y)(Q11.2) KARYOTYPE/
Autore:
SMITH YR; STETTEN G; CHARITY L; ISACSON C; GEARHART JP; NAMNOUM AB;
Indirizzi:
UNIV MICHIGAN,MED CTR,DEPT OBSTET & GYNECOL,DIV REPROD ENDOCRINOL,1500 E MED CTR DR,MPB-BOX 0718 ANN ARBOR MI 48109 JOHNS HOPKINS UNIV,SCH MED,DEPT OBSTET & GYNECOL BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,DEPT PATHOL BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,DEPT UROL BALTIMORE MD 21205
Titolo Testata:
Urology
fascicolo: 2, volume: 47, anno: 1996,
pagine: 259 - 262
SICI:
0090-4295(1996)47:2<259:AGIAEW>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN-CHROMOSOMES; Y-CHROMOSOME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
13
Recensione:
Indirizzi per estratti:
Citazione:
Y.R. Smith et al., "AMBIGUOUS GENITALIA IN AN ELDERLY WOMAN WITH A MOSAIC 45,X 46,X,DIC(Y)(Q11.2) KARYOTYPE/", Urology, 47(2), 1996, pp. 259-262

Abstract

A 66-year-old woman presented with clitoromegaly since childhood, primary amenorrhea, no breast development, and a large right inguinal hernia, A mosaic karyotype was identified containing a predominant 45,X cell line and a cell line with 46 chromosomes, one X chromosome, and a small dicentric Y chromosome with a breakpoint in band q11.2. The patient underwent hysterectomy, bilateral gonadectomy, inguinal hernia repair, clitoral recession, and formation of a neointroitus. A dysgerminoma was identified in the right dysgenetic gonad, This report demonstrates the natural history of untreated mixed gonadal dysgenesis and the importance of early evaluation and treatment, as well as the molecularcharacterization of a dicentric Y chromosome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/09/20 alle ore 05:09:42