Artículos de revistas
2 CASES OF YAUTOSOME TRANSLOCATIONS - A 45,X MALE AND A CLINICALLY TRISOMY-18 PATIENT
Registro en:
American Journal Of Medical Genetics. Wiley-liss, v. 49, n. 4, n. 388, n. 392, 1994.
0148-7299
WOS:A1994MU54400005
10.1002/ajmg.1320490407
Autor
FARAH, SB
RAMOS, CF
DEMELLO, MP
SARTORATO, EL
HORELLIKUITUNEN, N
LOPES, VLGS
CAVALCANTI, DP
HACKEL, C
Institución
Resumen
We report on 2 cases of Y;autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time. (C) 1994 Wiley-Liss, Inc. 49 4 388 392