Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22)(q22;q11).
A family is reported in which the propositus has an extra G-like chromosome with an unusual G-banding pattern. Cytogenetic family studies showed that the mother is a carrier of a balanced reciprocal translocation t(13;22), which does not affect the size and morphology of the chromosomes involved. The propositus has a 47,XY,+der(22),t(13;22)(q22;q11) karyotype and is therefore partially trisomic for the distal third of the long arm of chromosome 13 and for a very small part of chromosome 22. The clinical findings are presented and compared with those of other reported cases of partial trisomies 13 and 22.
D000015:Abnormalities, Multiple / Q000235:genetics; D000026:Abortion, Habitual; D000328:Adult; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy