Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
| Autor: | Vera Lúcia Gil-da-Silva-Lopes, Carla Rosenberg, Ana Andrade, Isabella Lopes Monlleó, Marshall Italo Barros Fontes, Miriam Coelho Molck, Ana Cristina Victorino Krepischi, Diogo Lucas Lima do Nascimento, Simone Appenzeller, Ana Paula Santos, Milena Simioni |
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| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Genotype Microarray Chromosomes Human Pair 22 Chromosomal translocation 030105 genetics & heredity Biology Genotype phenotype Correlation 03 medical and health sciences Chromosome Duplication Gene duplication Genetics medicine Humans Renal agenesis Genetic Association Studies In Situ Hybridization Fluorescence Genetics (clinical) Comparative Genomic Hybridization Infant Newborn Facies DELEÇÃO DE GENES Karyotype medicine.disease Chromosome Banding Natural history Phenotype Female Chromosome Deletion Chromosomes Human Pair 16 |
| Zdroj: | Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.37494 |
| Popis: | This article reports a patient with a de novo ∼ 9.32 Mb duplication at 16p13.3 and a ∼ 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. In addition, the patient presents a portal cavernoma, an alteration rarely reported in this condition. Renal agenesis was detected as additional developmental defect. After genomic array and FISH analysis, the karyotype was 46,XX,ins(22;16)(q13;p13.2p13.3). ish ins(22;16)(RP11-35P16+, RP11-27M24+). arr16p13.2p13.3(85,880-9,413,353)×3 dn arr22q13.33 (51,140,789-51,197,838)×1 dn. The authors provide a comprehensive review of the literature. This approach shed light on the genotype-phenotype correlation. |
| Databáze: | OpenAIRE |
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