De novo 3q/7q translocation and associated interstitial 7q35 deletion

Clin Genet. 1988 Jan;33(1):60-2. doi: 10.1111/j.1399-0004.1988.tb04267.x.


In the present report we describe a severely mentally retarded and dysmorphic female child with a de novo 3q/7q reciprocal translocation and loss of band 7q35. This finding supports the hypothesis that the occurrence of mental retardation and/or congenital malformations in de novo autosomal reciprocal translocation may be due to the loss of a small amount of chromatin material during this chromosomal rearrangement.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, Pair 7*
  • Failure to Thrive / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Translocation, Genetic*