Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion).
نویسندگان
چکیده
We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.
منابع مشابه
Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH).
PURPOSE Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome. METHODS The fluorescence in situ hybridization test using a LSI Williams syndrome regio...
متن کاملWilliams-Beuren syndrome: genes and mechanisms.
Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of approximately 1.6 Mb of chromosomal sub-band 7q11.23. The deletions are rather uniform in size as they arise spontaneously by inter- or intrachromosomal crossover events within misaligned duplicated regions of high sequence identity that flank the typical deletion. This review will discuss the status of the molec...
متن کاملHeterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder.
Williams-Beuren syndrome is a developmental multisystemic disorder caused by a recurrent 1.55-1.83 Mb heterozygous deletion on human chromosome band 7q11.23. Through chromosomal engineering with the cre-loxP system, we have generated mice with an almost complete deletion (CD) of the conserved syntenic region on chromosome 5G2. Heterozygous CD mice were viable, fertile and had a normal lifespan,...
متن کاملConstitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, i...
متن کاملReciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
BACKGROUND Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this re...
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عنوان ژورنال:
- Arquivos brasileiros de cardiologia
دوره 79 2 شماره
صفحات -
تاریخ انتشار 2002