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Interstitial deletion of the short arm of chromosome 1: Attempt to establish a clinical phenotype (46,XX,del (1)(p22p32))
Author(s) -
Mircher Clotilde,
Rethore MarieOdile,
Lespinasse James,
FertFerrer Sandra,
Lundsteen Claes,
Kirchoff Maria
Publication year - 2002
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.10052
Subject(s) - phenotype , genetics , chromosome , long arm , biology , chromosome 4 , chromosome abnormality , abnormality , gene , medicine , karyotype , psychiatry
A girl with a de novo interstitial deletion of the short arm of chromosome 1 (46,XX,del (1)(p22p32) is described with moderate developmental delay and minor phenotypic abnormality. These clinical manifestations are compared to previously reported patients with interstitial deletion of chromosome 1, in an attempt to identify a clinical phenotype which seems quite different from the syndrome linked to more terminal deletion of chromosome 1p, and perhaps from more proximal 1p deletion phenotype. © 2003 Wiley‐Liss, Inc.