Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter).
We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with the chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46,XY,-22,der(22),t(6;22)(q21; p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carriers.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics; D002906:Chromosomes, Human, 6-12 and X; D004677:Encephalocele / Q000235:genetics; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006554:Hernia, Umbilical / Q000235:genetics; D006801:Humans; D006869:Hydronephrosis / Q000235:genetics; D007231:Infant, Newborn; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy