We report on a 13-month-old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial penoscrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage.

In 1998 Latinos (Hispanics) in the United States number 30 million persons and account for 11.3% of the total population, while it is predicted that by the year 2020 they will become the largest minority. This article describes the demographics and health profile of the Latino population in the United States. A brief account is given of common cultural traditions and health beliefs that modulate the interaction of this population with the health delivery system in general, and that of genetic services in particular. Further, some problems in the access to, and utilization of genetic services are outlined, and the experience of a project designed to overcome those problems in New York City is described.

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