Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region

Am J Med Genet. 1997 Aug 22;71(3):361-5. doi: 10.1002/(sici)1096-8628(19970822)71:3<361::aid-ajmg20>3.0.co;2-h.


A number of clinical reports have described children with a variety of congenital anomalies in association with uniparental disomy (upd) of chromosome 14, suggesting that at least some genes on chromosome 14 are subject to parent of origin, or imprinting, effects. However, little else is known about this putative imprinting of chromosome 14. Both maternal and paternal upd have been observed, but a consistent phenotype has only been suggested for the former. Here we report on a child with developmental delay, microcephaly, distinct facial findings, and who has a duplication of 14q24.3q31. The same cytogenetic abnormality was found in her phenotypically normal father. We hypothesize that this segment of chromosome 14 contains maternally silenced genes, and that this duplicated segment defines an imprinted region on chromosome 14. Alternatively, this cytogenetic duplication may be unrelated to the girl's phenotypic anomalies, and this duplication may contain genes that are not subject to dosage effect.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 14 / genetics*
  • Chromosomes, Human, Pair 14 / ultrastructure
  • Developmental Disabilities / genetics
  • Face / abnormalities
  • Female
  • Genomic Imprinting*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Microcephaly / genetics
  • Phenotype