Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion

Brad Angle*, Joseph H. Hersh, Frank Yen, Katherine M. Christensen

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

We report on a male infant with partial trisomy 2q (q34→qter) resulting from a maternal pericentric inversion of chromosome 2 (p25.2q34). The infant had clinical findings similar to the characteristic phenotype associated with a partial duplication of chromosome 2q3. Carriers of pericentric inversions of chromosome 2 have an increased risk of pregnancy loss but have only rarely been reported to have a liveborn offspring with an unbalanced chromosome constitution. This case further confirms the risks associated with a pericentric inversion of chromosome 2 and is the second report with manifestations of the trisomy 2q3 phenotype. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)126-130
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume91
Issue number2
DOIs
StatePublished - 2000

Keywords

  • Chromosome abnormality
  • Parental pericenttic inversion
  • Trisomy 2q3

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion'. Together they form a unique fingerprint.

Cite this