2 CASES OF YAUTOSOME TRANSLOCATIONS - A 45,X MALE AND A CLINICALLY TRISOMY-18 PATIENT

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.