[Partial 10q trisomy (q24;q ter) caused by a balanced maternal translocation t(6;10)(q26;q24)]

Abstract

Authors have had the opportunity to study a patient affected by a malformative syndrome with severe motricity and mental retardation. Physical findings (namely: spacious forehead, flat and round face, small palpebral fissures, hypotonicity and growth retardation) are similar to the phenotype previously described in trisomy 10q. Chromosomal diagnosis failed until G, Q and R banding technique was applied. With this technique a partial 10q trisomy (q24 leads to q ter) due to a maternal translocation t(6:10)(q26;q24) was found.