[Partial 10q trisomy (q24;q ter) caused by a balanced maternal translocation t(6;10)(q26;q24)].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
Trisomía parcial 10q (q24;q ter) debida a una translocación materna t(6;10)(q26;q24) balanceada.