A family with three independent autosomal translocations associated with 7q32----7qter syndrome.
Two persons within the same family were discovered to be trisomic for the segment 7qter. However, several features differed from those described in other patients with this syndrome, for example, normal birth weight and neck size, cleft palate, and beaked nose. In addition to the phenotypic variation, there were three independently segregating autosomal translocations in the pedigree: t(1;7)(q43;q32), t(1;6) (p22.3;q14.1), and t(3;10)(q26.1;p11.21). This is a finding that, to our knowledge, has not been previously reported.
D000328:Adult; D001724:Birth Weight; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy