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A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation
Author(s) -
Zahed L.,
Oreibi G.,
ElAmine H.,
Obeid M.,
Bitar F.F.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30084
Subject(s) - isochromosome , chromosomal translocation , trisomy , chromosome , long arm , biology , genetics , abnormality , partial trisomy , karyotype , medicine , gene , psychiatry
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. © 2004 Wiley‐Liss, Inc.