Partial deletion of the short arm of chromosome 3: further delineation of the 3p25 ‐ 3pter syndrome

R. M. Reifen, R. Gale*, E. Kerem, Y. Armon, A. Brand, J. Dagan, G. Kohn

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

A male newborn with partial deletion of the short arm of chromosome 3 is described. The patient shares most of the features with the previously reported cases. In addition, cardiac, skeletal and gastrointestinal anomalies not previously reported are described. These characteristics may help in further delineation of the syndrome.

Original languageAmerican English
Pages (from-to)127-130
Number of pages4
JournalClinical Genetics
Volume30
Issue number2
DOIs
StatePublished - Aug 1986
Externally publishedYes

Keywords

  • Congenital heart disease
  • chromosome 3
  • chromosome deletion
  • imperforate anus
  • multiple congenital malformations
  • partial monosomy 3p

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