DE-NOVO 46,XX, DIR DUP (11)(Q13.3-]Q14.2) IN A PATIENT WITH MENTAL-RETARDATION, CONGENITAL CARDIOPATHY AND THROMBOPENIA

A 31-year-old female is reported with mild to moderate mental retardat ion, facial dysmorphy, congenital cardiopathy, and mild thrombocytopen ia as the most important clinical findings. Chromosome analysis in lym phocytes showed a de novo dir dup (11)(q13.3-->14.2), by both G-bandin g and FISH techniques. Previously reported constitutional duplications of 11q are mostly the result of unbalanced translocations involving c hromosome 11q, and are associated with a partial monosomy or trisomy o f the translocation partner chromosome. In case of an unbalanced trans location it is not clear which clinical findings result from the chrom osome 11 duplication and which result from the abnormality on the tran slocation partner chromosome. This is the first report on a constituti onal duplication of chromosome region 11q13.3-->14.2 without involveme nt of other chromosomes.