Deletion mapping of HLA and chromosome 6p genes.
نویسندگان
چکیده
منابع مشابه
Chromosome 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 کاملCase report: Y;6 translocation with deletion of 6p.
Translocations between the Y chromosome and an autosome are rare. We report a phenotypic male with a translocation between the Y chromosome and chromosome 6p, leading to partial 6p monosomy and XX male syndrome. He is the second child to be reported with this karyotype. Phenotypic findings included growth retardation, severe developmental delay, a Dandy-Walker malformation, cardiac and urogenit...
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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چکیده ندارد.
15 صفحه اولTerminal 6p deletion syndrome mimicking CHARGE syndrome: A case report.
The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies,...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1985
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.82.11.3741