| Autor: |
Ramírez-Velazco A; División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México madq67@yahoo.com.mx., Domínguez-Quezada MG |
| Jazyk: |
Spanish; Castilian |
| Zdroj: |
Revista medica del Instituto Mexicano del Seguro Social [Rev Med Inst Mex Seguro Soc] 2017 Sep-Oct; Vol. 55 (5), pp. 615-620. |
| Abstrakt: |
The Williams-Beuren (SWB; OMIM 194050) syndrome is an autosomal dominant multisystem disorder that occurs in ~ 1 in 20,000 live births and results from a 7q11.23 deletion spanning ~ 28 genes. This deletion is caused by a nonallelic homologous recombination (NAHR) between low copy repeats present therein. The SWB phenotype is characterized by neonatal hypercalcemia, mental disability, distinctive personality and cognitive profile, short stature, dysmorphic facies, connective tissue disorders and supravalvular aortic stenosis. Ninety percent of the deletions are of 1.5 Mb, 8% of 1.84Mb, and only 2% are atypical. Although only ~ 40 atypical deletions have been described, they have contributed to clarify the genotype-phenotype correlation and allowed for a more integrative management. In this review we highlight the importance of detecting atypical deletions in patients with SWB. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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