Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter).
A 6-month-old boy with trisomy 10pter----q11 is reported. He presented facial dysmorphism very similar to that found on most other cases of trisomy 10p syndrome, dextrocardia, umbilical hernia, hypotonia and mental retardation. The chromosome anomaly was inherited by 3:1 segregation of a balanced maternal translocation, t(10qter----q11 ::14p11----qter).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D003914:Dextrocardia / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy