Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype

Clin Genet. 1993 Nov;44(5):258-61. doi: 10.1111/j.1399-0004.1993.tb03893.x.

Abstract

A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17*
  • Cryptorchidism / genetics
  • Face / abnormalities
  • Hearing Loss, Bilateral / genetics
  • Hernia, Inguinal / genetics
  • Hip Dislocation, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Microcephaly / genetics
  • Phenotype
  • Skull / abnormalities*
  • Thumb / abnormalities
  • Vision, Low / genetics