Sb. Farah et al., 2 CASES OF YAUTOSOME TRANSLOCATIONS - A 45,X MALE AND A CLINICALLY TRISOMY-18 PATIENT, American journal of medical genetics, 49(4), 1994, pp. 388-392
We report on 2 cases of Y;autosome translocations. One is a male with
normal external genitalia and 45,X karyotype without evidence of mosai
cism or apparent translocation on cytogenetic analysis. In situ hybrid
ization showed that the euchromatic portion of the Y-chromosome is tra
nslocated 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 w
ith clinical signs of trisomy 18 is reported here for the first time.
(C) 1994 Wiley-Liss, Inc.