Balanced complex chromosomal rearrangements with more than four breakpoints: report of a new case

Am J Med Genet. 1991 Sep 1;40(3):370-3. doi: 10.1002/ajmg.1320400325.

Abstract

Congenital complex chromosomal rearrangement (CCR) compatible with life are rare in man. We report on a new case of apparently balanced CCR in a 30-month-old boy with mental retardation and minor anomalies. This CCR consists in a 3-way reciprocal translocation (2;3;16) and an insertion (6;7), as it was analyzed by different banding and high resolution techniques. It involves 6 breakpoints: 2q11, 13q12, 16p11, 6p21.3, 7q21.3 and 7q35.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 6
  • Chromosomes, Human, Pair 7
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Translocation, Genetic* / genetics