Familial dup(5)(q15q21) associated with normal and abnormal phenotypes

Am J Med Genet. 1998 Jan 6;75(1):75-7. doi: 10.1002/(sici)1096-8628(19980106)75:1<75::aid-ajmg15>3.0.co;2-p.


We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems to be the smallest dup(5q) reported thus far. This dup(5q) was confirmed by fluorescence in situ hybridization with a chromosome 5 painting library and 5q cosmid clones. The presence of the dup(5q) in a normal father suggested that the duplication itself may be harmless. The anomalies in the twins may be due to processes other than this chromosome change.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Phenotype
  • Pregnancy
  • Trisomy / genetics
  • Twins, Monozygotic