Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother's first affected daughter

Clin Dysmorphol. 2007 Jan;16(1):63-64. doi: 10.1097/01.mcd.0000220615.55402.d8.

Abstract

Complex chromosomal rearrangements, defined as exchanges between three or more chromosomes, are very rare aberrations in human chromosomal pathology. We present a case of a complex, apparently balanced maternal chromosome rearrangement involving five different chromosomes (1, 4, 10, 12 and 20) and six breakpoints ascertained through a deletion of the short arm of chromosome 4 [del(4)(p14p15)] detected in a mother's affected 2-year old daughter.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adult
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Disorders / genetics*
  • Chromosome Disorders / pathology
  • Chromosomes, Human / genetics*
  • Female
  • Humans