Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes
| Autor: | Donatella Milani, Paola Castronovo, Gaia Roversi, Maura Masciadri, Rolph Pfundt, Eric F.P.M. Schoenmakers, Lidia Larizza, Giuseppe Zampino, Silvia Russo, Angelo Selicorni, Cristina Gervasini |
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| Přispěvatelé: | Gervasini, C, Pfundt, R, Castronovo, P, Russo, S, Roversi, G, Masciadri, M, Milani, D, Zampino, G, Selicorni, A, Schoenmakers, E, Larizza, L |
| Rok vydání: | 2008 |
| Předmět: |
Male
Cornelia de Lange Syndrome Genetics and epigenetic pathways of disease [NCMLS 6] Chromosomal Proteins Non-Histone Cell Cycle Proteins Biology medicine.disease_cause De Lange Syndrome Cell Cycle Protein Gene duplication Genetics medicine Humans Copy-number variation Genetics (clinical) Molecular diagnosis prognosis and monitoring [UMCN 1.2] Mutation Comparative Genomic Hybridization Genome Human Protein Proteins NIPBL CORNELIA DE LANGE medicine.disease Phenotype Human genetics Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA Female Chromosome Deletion Comparative genomic hybridization |
| Zdroj: | Clinical Genetics, 74, 6, pp. 531-8 Clinical Genetics, 74, 531-8 |
| ISSN: | 0009-9163 |
| Popis: | Contains fulltext : 71071.pdf (Publisher’s version ) (Closed access) Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrome characterized by varied clinical signs including facial dysmorphism, pre- and post-natal growth defects, small hands and malformations of the upper limbs. Established genetic causes include mutations in the NIPBL (50-60%), SMC1L1 and SMC3 (5%) genes. To detect chromosomal rearrangements pointing to novel positional candidate CdLS genes, we used array-CGH to analyze a subgroup of 24 CdLS patients negative for mutations in the NIPBL and SMC1L1 genes. We identified three carriers of DNA copy number alterations, including a de novo 15q26.2-qter 8-Mb deletion, and two inherited 13q14.2-q14.3 1-Mb deletion and 13q21.32-q21.33 1.5-Mb duplication, not reported among copy number variants. The clinical presentation of all three patients matched the diagnostic criteria for CdLS, and the phenotype of the patient with the 15qter deletion is compared to that of both CdLS and 15qter microdeletion patients. |
| Databáze: | OpenAIRE |
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