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

David W. Stockton, Helen L. Ross, Carlos A. Bacino, Carolyn A. Altman, Lisa G. Staffer, James R. Lupski

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)189-193
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume71
Issue number2
DOIs
StatePublished - Aug 8 1997

Keywords

  • Chromosome 1p
  • Chromosome abnormality
  • Chromosome deletion
  • Congenital heart disease
  • Monosomy 1p
  • Multiple congenital anomaly (MCA) syndrome

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