Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes
نویسندگان
چکیده
منابع مشابه
Immune Defects in Chromosome 22q11.2 Deletion Syndromes
Chromosome 22q11.2 deletion syndrome (del22q) is one of the most common genetic disorders in humans and results in the triad of cardiac defects, parathyroid hypoplasia, and thymic hypoplasia with variable immune deficiency. Some patients are at increased risk for infection and up to 10% will develop autoimmune disease. The purpose of this study was to further define reduced thymic output and ri...
متن کاملChromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).
Chromosome 22q11.2 deletion syndrome occurs in approximately 1 of 3000 children. Clinicians have defined the phenotypic features associated with the syndrome and the past 5 years have seen significant progress in determining the frequency of the deletion in specific populations. As a result, caregivers now have a better appreciation of which patients are at risk for having the deletion. Once id...
متن کاملChromosome 6p amplification and cancer progression.
Chromosomal imbalances represent an important mechanism in cancer progression. A clear association between DNA copy-number aberrations and prognosis has been found in a variety of tumours. Comparative genomic hybridisation studies have detected copy-number increases affecting chromosome 6p in several types of cancer. A systematic analysis of large tumour cohorts is required to identify genomic ...
متن کاملGlomerulopathy in patients with distal duplication of chromosome 6p.
BACKGROUND Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a proteinuric glomerulopathy. CASE PRESENTATION Here, we report a 13-year-old girl with 6p25.3p22.1 duplication who presented with proteinuria in...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2004
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201194