Homozygosity for a Robertsonian translocation (13q14q) in three offspring of heterozygous parents.
A family containing three homozygous carriers for a Robertsonian (13q14q) translocation, 44,XX or XY,t(13q14q),t(13q14q), is reported. Their parents are first cousins, and both are heterozygous carriers of the same (13q14q) translocation. The fertility of both the heterozygous and homozygous carriers is discussed.
D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic