Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1

J Med Genet. 1995 Aug;32(8):636-7. doi: 10.1136/jmg.32.8.636.

Abstract

We report an 18 month old girl with developmental delay, dysmorphic features, and a karyotype 46,XX,del (1) (p32.1p32.3). To our knowledge the clinical features associated with this deletion have not been reported previously.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Disorders*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Developmental Disabilities / genetics*
  • Face / abnormalities*
  • Female
  • Humans
  • Karyotyping
  • Lymphocytes / pathology