Artículos de revistas
Two Cases Of Y; Autosome Translocations: A 45,x Male And A Clinically Trisomy 18 Patient.
Registro en:
American Journal Of Medical Genetics. v. 49, n. 4, p. 388-92, 1994-Feb.
0148-7299
10.1002/ajmg.1320490407
8160730
Autor
Farah, S B
Ramos, C F
de Mello, M P
Sartorato, E L
Horelli-Kuitunen, N
Lopes, V L
Cavalcanti, D P
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. 49 388-92