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Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome
Author(s) -
Bélien Valérie,
GérardBlanluet Marion,
Serero Stéphane,
Le Dû Nathalie,
Baumann Clarisse,
Jacquemont MarieLine,
Dupont Céline,
Krabchi Kada,
Drunat Séverine,
Elbez Annie,
Janaud JeanClaude,
Benzacken Brigitte,
Verloes Alain,
Tabet AnneClaude,
Aboura Azzedine
Publication year - 2008
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.32392
Subject(s) - small supernumerary marker chromosome , supernumerary , biology , trisomy , genetics , isochromosome , marker chromosome , hypotonia , fluorescence in situ hybridization , aneuploidy , chromosome , karyotype , anatomy , gene
Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the ∼60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3‐month‐old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11–154H4 + , TBX1‐). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q. © 2008 Wiley‐Liss, Inc.