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Titolo:
A COMBINED CYTOGENETIC AND MOLECULAR APPROACH FOR DIAGNOSING DELAYED PUBERTY
Autore:
MARK HFL; BAYLERAN JK; SEIFER DB; MEYERSSEIFER CH;
Indirizzi:
RHODE ISL HOSP,LAB CYTOGENET FISH & GEROTOXICOL,APC 11,593 EDDY ST PROVIDENCE RI 02903 BROWN UNIV,SCH MED PROVIDENCE RI 02912 EASTERN MAINE MED CTR BANGOR ME 00000 WOMEN & INFANTS HOSP RHODE ISL PROVIDENCE RI 00000
Titolo Testata:
Clinical pediatrics
fascicolo: 2, volume: 35, anno: 1996,
pagine: 62 - 66
SICI:
0009-9228(1996)35:2<62:ACCAMA>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYMERASE CHAIN-REACTION; HUMAN CHROMOSOMES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
H.F.L. Mark et al., "A COMBINED CYTOGENETIC AND MOLECULAR APPROACH FOR DIAGNOSING DELAYED PUBERTY", Clinical pediatrics, 35(2), 1996, pp. 62-66

Abstract

A phenotypic female aged 15 4/12 years was referred because of delayed puberty and short stature, Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells, The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X chromosome and a G-sized chromosome that resembled a Y chromosome in morphology, Subsequent fluorescent in situ hybridization yielded results consistent with the above conventional cytogenetic studies. To protide unequivocal evidence of the Y-chromosome material, molecular analyses using the polymerase chain reaction and various primers were carried out which identified an intact short arm and centromere of the Y chromosome and structurally altered long arms, A laparoscopic bilateral gonadectomy, performed because of the risk of neoplasia, also yielded cells with both 45,X and 46,XY karyotypes. The present report thus illustrates the usefulness of a combined approach for diagnosing delayed puberty.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 13:29:05