Partial trisomy 6p due to maternal t(1;6) translocation

Clin Genet. 1996 Jun;49(6):316-7. doi: 10.1111/j.1399-0004.1996.tb03797.x.


Partial trisomy 6p with duplications ranging from 6p21 to 6p25 is emerging as an established syndrome. A case of duplication of segment p22-p25 of the short arm of chromosome 6 as the result of a maternal t (1;6)(q44;p22.2) translocation in a mentally retarded girl with congenital anomalies is reported here. The associated phenotypic anomalies are compared with other reported cases of duplication 6p involving adjacent regions.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 6*
  • Female
  • Genomic Imprinting*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Translocation, Genetic*
  • Trisomy*