Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23)

Ann Genet. 2003 Jan-Mar;46(1):45-8. doi: 10.1016/s0003-3995(03)00004-2.

Abstract

There have only been eight patients with 6p pure trisomy involving different segments: four cases resulted from a translocation or insertion and four were due to an intrachromosomal duplication. We report here the first postnatally ascertained patient with a pure 6p partial trisomy due to an interchromosomal insertion (16;6)(p12;p21.2p23)mat. This rearrangement was confirmed by fluorescent in situ hybridization (FISH) with whole chromosome 6 and 16 painting probes. The clinical findings in the present patient were similar to those observed in previous cases, including craniofacial dysmorphism, minor anomalies, and lack of severe anatomical defects; yet, the unspecificity of many of these features prevented us from delineating the 6p pure trisomy syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 6*
  • Craniofacial Abnormalities / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Trisomy*