E. Legius et al., DE-NOVO 46,XX, DIR DUP (11)(Q13.3-]Q14.2) IN A PATIENT WITH MENTAL-RETARDATION, CONGENITAL CARDIOPATHY AND THROMBOPENIA, Clinical genetics, 49(4), 1996, pp. 206-210
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.