Balanced rearrangement of chromosomes 2, 5, and 13 in a family with duplication 5q and fetal loss.
We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangements involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.
D000015:Abnormalities, Multiple / Q000235:genetics; D000026:Abortion, Habitual / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D002905:Chromosomes, Human, 4-5 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic