Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37

Linlea Armstrong, Judith E. Allanson, David D. Weaver, Carole J. Bevan, Holly H. Hobart

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

We describe two unrelated patients who each have a similar chromosome 2 with duplication of 2p23 to pter, and deletion of 2q37 to qter. In one, the abnormality was derived from his mother with a pericentric inversion. Both individuals have frontal bossing; abnormally formed, low set and posteriorly rotated ears; redundant nuchal skin; inversion of the nipple(s); fleshy fingertips with prominent pads; a sacral dimple; significant developmental delay/mental retardation; and G-tube dependency. Most of these features are present in previously described individuals with either duplication of the 2p terminus or deletion of the 2q terminus. This report is the first that documents postnatal viability of individuals with concurrent duplication of 2p and deletion of 2q, and also generation of this imbalance through rearrangement of a maternally inherited pericentrically inverted 2. This report should be considered in the reproductive counseling of individuals with pericentric inversions of chromosome 2.

Original languageEnglish (US)
Pages (from-to)299-304
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume134 A
Issue number3
DOIs
StatePublished - Apr 30 2005

Keywords

  • Autistic
  • Chromosome 2
  • Partial monosomy
  • Partial trisomy
  • Terminal deletion 2q
  • Terminal duplication 2p

ASJC Scopus subject areas

  • Genetics(clinical)

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