Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion.
A del(13)(q13q21.1) was found in a patient with bilateral retinoblastoma and mental retardation. The father was carrier of an ins(16;13)(q12.2;q13q21.1) which also was present in several other family members, and responsible for another case of del (13q)-retinoblastoma and two cases of trisomy for the inserted segment. This second del(13q) patient was also carrier of a balanced t(11;22).
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D004251:DNA Transposable Elements; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012175:Retinoblastoma / Q000235:genetics*
D004251:DNA Transposable Elements