A Unique De Novo Interstitial Deletion del(17)(q21.3q23) in a Phenotypically Abnormal Infant

Clin Genet. 1992 Jan;41(1):54-6. doi: 10.1111/j.1399-0004.1992.tb03631.x.

Abstract

We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hypertelorism with upslanted palpebral fissures. We are unaware of other reported cases involving such interstitial deletion of 17, or of translocations involving the breakpoint regions observed in our case.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 17 / ultrastructure*
  • Clubfoot / genetics
  • Face / abnormalities
  • Female
  • Hand Deformities, Congenital / genetics
  • Humans
  • Hypertelorism / genetics
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Phenotype