Clinical and Molecular Characterization of a Patient with 15q21.2q22.2 Deletion Syndrome
| Autor: | Diego Arenas-Aranda, Cristian P Miguez-Muñoz, Ana Claudia Velázquez-Wong, María Antonieta de Jesús Araujo-Solís, Miguel Ángel Velázquez-Flores, Ruth Ruiz Esparza-Garrido, Fabio Salamanca-Gómez, Alan Cárdenas-Conejo, Juan Carlos Huicochea-Montiel |
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| Rok vydání: | 2014 |
| Předmět: |
Adolescent
Developmental Disabilities Chromosomal rearrangement Biology Bioinformatics Intellectual disability Genetics medicine Humans Abnormalities Multiple Deletion syndrome Global developmental delay Molecular Biology In Situ Hybridization Fluorescence Genetics (clinical) Chromosomes Human Pair 15 Comparative Genomic Hybridization Breakpoint medicine.disease Phenotype Chromosomal region Female Chromosome Deletion Comparative genomic hybridization |
| Zdroj: | Cytogenetic and Genome Research. 144:183-189 |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000370081 |
| Popis: | We report on a 16-year-old girl with a complex phenotype, including intellectual disability, facial dysmorphisms, and obesity. During her infancy, she presented with weak sucking, global developmental delay, and later with excessive eating with central obesity. The girl was clinically diagnosed with probable Prader-Willi syndrome. Chromosomal analysis showed a de novo deletion 46,XX,del(15)(q21q22). However, the use of the Affymetrix CytoScan HD Array defined the exact breakpoints of the deleted 15q21q22 region. The imbalance, about 10.5 Mb in size, is to date the second largest deletion ever described in this chromosomal region. In addition, our patient carries a microdeletion in the 1q44 region and a gain in 9p24. The array result was arr[hg19] 9p24.1(6,619,823-6,749,335)×3, 1q44(248,688,586-248,795,277)×1, 15q21.2 q22.2(50,848,301-61,298,006)×1. Although our patient presents additional chromosomal alterations, we provide a correlation between the clinical findings and the phenotype of the 15q21 deletion syndrome. |
| Databáze: | OpenAIRE |
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