Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome
| Autor: | Stéphane Serero, Alain Verloes, Marion Gérard-Blanluet, Séverine Drunat, Nathalie Le Dû, Kada Krabchi, Jean-Claude Janaud, Céline Dupont, Clarisse Baumann, Annie Elbez, Azzedine Aboura, Anne-Claude Tabet, Brigitte Benzacken, Valérie Bélien, Marie-Line Jacquemont |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Heart Defects Congenital Pathology medicine.medical_specialty Chromosomes Human Pair 22 Marker chromosome Aneuploidy Biology Trisomy 22 Pregnancy Genetics medicine Humans Abnormalities Multiple Supernumerary Small supernumerary marker chromosome In Situ Hybridization Fluorescence Genetics (clinical) Fetal Growth Retardation medicine.diagnostic_test Infant Syndrome Anatomy medicine.disease Cat eye syndrome Coloboma Phenotype Pulmonary Veins Female Chromosome 22 Fluorescence in situ hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. :1871-1874 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.32392 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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