[Partial trisomy 13 due to maternal translocation t(2;13)]

Ann Genet. 1977 Sep;20(3):203-8.
[Article in French]

Abstract

The authors report an observation of partial trisomy 13p13 leads to qter and suggest a clinical map of chromosome 13. Increase of fetal hemoglobin seems to be controlled by region 1 of 13q. Bands q13 q14 and q21 seem to be responsible for inner organ malformations. Lastly, the distal segment q22 leads to qter is responsible for trigonocephaly and limb abnormalities.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, 13-15*
  • Female
  • Humans
  • Infant, Newborn
  • Pedigree
  • Translocation, Genetic
  • Trisomy*