A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
| Autor: | Jan P. Dumanski, Carl E.G. Bruder, Robert P. Erickson, Teresita Díaz de Ståhl |
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| Rok vydání: | 2007 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Chromosomes Human Pair 22 Locus (genetics) In situ hybridization Biology Chromosomes Diagnosis Differential DiGeorge syndrome DiGeorge Syndrome Genetics medicine Humans Abnormalities Multiple In Situ Hybridization Fluorescence Genetics (clinical) Facies Syndrome medicine.disease Phenotype Smith-Lemli-Opitz Syndrome Child Preschool Chromosome Deletion Comparative genomic hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. :3302-3308 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | Five patients were previously described with the Opitz (GBBB) syndrome (OMIM 145410) phenotype and 22q11.2 deletion determined by FISH but the precise limits of their deletions have not been determined. Since one locus for Opitz syndrome maps to 22q11.2 and chromosomal arrangements are frequently complex and could inactivate such a locus, we performed high-resolution array-based comparative genomic hybridization (CGH) on a new Opitz syndrome-like phenotype patient with a 22q11.2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome. |
| Databáze: | OpenAIRE |
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