A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation. uri icon

Overview

abstract

  • Short arm isochromosome formation with translocation of the entire long arm of the same chromosome is an unusual constitutional abnormality that has been observed, to our knowledge, in 18 cases. Only one of these previously reported cases involved chromosome 4, resulting in pure trisomy 4p. Pure trisomy 4p has been reported in a number of cases, the majority of them due to familial chromosome rearrangements, and is associated with a distinct pattern of abnormal findings. We report here a second case of a de novo chromosome 4 whole arm translocation with short-arm isochromosome formation, which we have delineated further by FISH studies.

publication date

  • July 1, 2004

Research

keywords

  • Isochromosomes
  • Trisomy

Identity

Scopus Document Identifier

  • 3042786268

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.30084

PubMed ID

  • 15211659

Additional Document Info

volume

  • 128A

issue

  • 1