Holoprosencephaly and interstitial deletion of 2(p2101p2109)

Am J Med Genet. 1989 Oct;34(2):252-4. doi: 10.1002/ajmg.1320340226.

Abstract

We report on a girl with holoprosencephaly and a small, de novo interstitial deletion of most of band 2(p21). The similarity between the cytogenetic findings and CNS malformations in our patient and those recently reported by Münke et al. [Am J Med Genet 30:929-938, 1988] suggests a phenotypic relationship between deletion of this band and holoprosencephaly.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities*
  • Brain / diagnostic imaging
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Facial Bones / abnormalities
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Radionuclide Imaging
  • Skull / abnormalities
  • Syndrome
  • Tomography Scanners, X-Ray Computed