A further report on a kindred with cases of 4p trisomy and monosomy.
An extended study on a previously described family, in which a rcp(4;12) (p14;p13) translocation is segregating, is reported. 2 further individuals with 4p trisomy are described. The risk to translocation carriers of having liveborn offspring with either 4p trisomy or monosomy is calculated to be 25%.
D000328:Adult; D002648:Child; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012306:Risk; D014178:Translocation, Genetic; D014314:Trisomy