Cognitive and Behavioral Functioning Among Fraternal Twins with an Unbalanced Translocation of Chromosomes 10q and 12p: A Case Report

10q distal trisomy and 15q monosomy as a rare genetic cause for intellectual disability

“…The second patient's developmental history was also consistent with global developmental delay; she was diagnosed with moderate ID. Musculoskeletal abnormalities such as hypotonia, abnormal laxity of the joints and other malformations of the extremities may also be seen, along with abnormalities of other systems, such as the renal, respiratory, and cardiac systems (8). In our cases, the lack of involvement of the internal organs may be explained by previous findings suggesting that the phenomenology and the severity of symptoms may vary among individuals, probably depending on the length of the duplicated region (9).…”

“…Carriers of a balanced translocation may not have any pathological condition; however, in their offspring, the altered set of chromosomes may yield extra and/or missing genetic material in certain locations, known as an unbalanced translocation. Congenital abnormalities are usually associated with unbalanced translocations (8,9). In our cases, the children had extra material on chromosome 10q and missing material on chromosome 15q, stemming from a maternal balanced translocation of chromosomes 10 and 15.…”

“…The phenotypic features as well as the neurodevelopmental pathologies of these patients are thought to be associated with distal trisomy 10q and monosomy 15q syndromes. A number of researchers have reported on both trisomy 10q and monosomy 15q syndromes and the clinical consequences (8).…”