A family with two different chromosomal translocations.
The proband was a 22-year-old woman who had two spontaneous abortions in the first trimester of pregnancy. She had a consanguineous marriage with no history of malformation or developmental disorders in the family. Her gynecological examination was normal. Chromosome analysis of the family showed two different katyotypes 46,XY,t(1;16)(p22;p13) and 46,XX,t(1;16)(q24;q24) using high-resolution banding (HRB). Proband's family was also examined for chromosome analysis. A t(1;16)(p22;p13) was found in the husband's father and other relatives, and a t(1;16)(q24;q24) translocation in the proband's family. This second tanslocation is not found in her parents.
Ozkul
Y
Y
Department of Genetics, Erciyes University School of Medicine, 38039 Kayseri, Turkey. ozkul@erciyes.edu.tr <ozkul@erciyes.edu.tr>
Dundar
M
M
D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic