نتایج جستجو برای: chromosome microdeletion
تعداد نتایج: 120218 فیلتر نتایج به سال:
The common clinical features reported in ring chromosome 22 cases include overall developmental delay with severe speech disability, growth retardation with frequently associated microcephaly, hypotonia, and dysmorphic traits, such as epicanthus, normally placed but large and dysplastic ears, long eyelashes with full eyebrows, and occasionally high arched palate, dental malocclusion, and mild h...
the autism spectrum disorders (asds) are common neurodevelopmental disorders estimated to affect 1 in 88 children. asd is a complex condition, result of genetic, epigenetic and environmental factors. however, genetic comopnent seems to play an important role. the loss/gain of 1kb and more nucleotides, copy number variation (cnv), is the significant genetic factor in the etiology of asd. the cnv...
In the course of evolution Y chromosome has acquired an important role in sex determination owing to the differentiation of the SRY gene from its X homologue. Apart from the functionally specialized SRY gene, the Y chromosome harbors several genes responsible for normal fertility. Three different spermatogenic loci namely AZFa, AZFb and AZFc located in the long arm of Y chromosome (Yq) has the ...
In 5-10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1-REP-a and distal NF1-REP-c for the 1.4 Mb type-1 microdeletion, and SUZ12 and SUZ12P for the ...
BACKGROUND Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new tech...
Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید