Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review

Am J Med Genet. 1997 Aug 8;71(2):189-93. doi: 10.1002/(sici)1096-8628(19970808)71:2<189::aid-ajmg13>;2-a.


We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to others with deletions of 1p, we found that the current case was much more severely affected than previously reported cases.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1 / genetics*
  • Craniofacial Abnormalities / genetics*
  • Female
  • Hand Deformities, Congenital / genetics*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Phenotype