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2008:
Bélien Valérie; Gérard-Blanluet Marion; Serero Stéphane; Le Dû Nathalie; Baumann Clarisse; Jacquemont Marie-Line; Dupont Céline; Krabchi Kada; Drunat Séverine; Elbez Annie; Janaud Jean-Claude; Benzacken Brigitte; Verloes Alain; Tabet Anne-Claude; Aboura Azzedine
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.
American journal of medical genetics. Part A 2008;
146A(
14):.
Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the approximately 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.
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