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Titolo:
ASSESSMENT OF SEX-CHROMOSOME COMPOSITION USING FLUORESCENT IN-SITU HYBRIDIZATION AS AN ADJUNCT TO GTG-BANDING
Autore:
MARK HFL; MEYERSSEIFER CH; SEIFER DB; DEMORANVILLE BM; JACKSON IMD;
Indirizzi:
RHODE ISL HOSP,CYTOGENET FISH & GENOTOXICOL LAB,593 EDDY ST PROVIDENCE RI 02903 WOMEN & INFANTS HOSP RHODE ISL PROVIDENCE RI 00000 BROWN UNIV,SCH MED PROVIDENCE RI 02903
Titolo Testata:
Annals of clinical and laboratory science
fascicolo: 5, volume: 25, anno: 1995,
pagine: 402 - 408
SICI:
0091-7370(1995)25:5<402:AOSCUF>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONVENIENT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
H.F.L. Mark et al., "ASSESSMENT OF SEX-CHROMOSOME COMPOSITION USING FLUORESCENT IN-SITU HYBRIDIZATION AS AN ADJUNCT TO GTG-BANDING", Annals of clinical and laboratory science, 25(5), 1995, pp. 402-408

Abstract

Fluorescent in situ hybridization (FISH) using dual color X chromosome- and Y chromosome-specific probes was employed to assess further thesex chromosome copy number in cells of a phenotypic female patient with hypergonadotropic hypogonadism, primary amenorrhea and growth retardation. The GTG-banding analysis of peripheral blood lymphocytes had revealed the presence of predominantly 46,XY cells. A FISH analysis, undertaken to assess further the contribution of a minor cell line, yielded frequencies of 87% cells with the 46,XY constitution and 9% with the 45,X constitution. To establish unequivocally the presence of mosaicism, a skin biopsy was obtained for fibroblast culture, which furthercorroborated the results of the peripheral blood study. Fluorescent in situ hybridization analysis revealed 74% of the cells to be 46,XY and 12% to be 45,X. The unequivocal presence of XY cells puts the patient at risk for neoplastic transformation of the gonads. Laparoscopy andsurgical removal of the patient's presumptive streak gonads were therefore undertaken. Cytogenetic results derived from the gonadal tissuesfurther strengthened findings of previous cytogenetic analyses. It isour experience that FISH is a useful adjunct to established cytogenetic techniques in the management and monitoring of patients similar to the proband described in this study.

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Documento generato il 02/12/20 alle ore 07:20:35