11q aneuploidy: partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation.
A woman with a balanced translocation t(3;11)(p27;q23) has had three abnormal children. The first child died in infancy, and of the two survivors who show segregation of the derivative maternal translocated chromosomes, one exhibits partial trisomy 11q and the other partial monosomy 11q. The two cases are compared with each other and with reported examples. Moreover, 11q break points are discussed.
D000328:Adult; D000782:Aneuploidy; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D003394:Craniofacial Dysostosis / Q000235:genetics; D003878:Dermatoglyphics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy