نتایج جستجو برای: chromosome microdeletion
تعداد نتایج: 120218 فیلتر نتایج به سال:
22q 11 deletion syndrome (22q11DS; Online Mendelian inheritance in man #192430) also known as velocardiofacial or DiGeorge syndrome, is a genetic disorder resulting from a hemizygous microdeletion of the long arm of chromosome 22. It has an estimated prevalence of 1 out of 4000 live births and results in a heterogeneous clinical presentation that is irrespective of deletion size and can be asso...
Significant advances in treatment have enabled previously infertile males to achieve fatherhood, when only a few years ago they would have had no chance of biological paternity. In contrast to the overall success of assisted reproduction, the aetiology of male-factor infertility is poorly understood. Recent studies have shown, however, that a significant proportion of men with severe infertilit...
We report a 21 year-old girl with classical Rett syndrome (RS) based on clinical diagnosis. The molecular testing of MECP2 gene revealed that the patient is homozygous for a de novo 473C > T mutation, causing the T158M amino acid change. Chromosome analysis showed a normal karyotype, and the haplotype analysis ruled out the possibility of parental disomy or microdeletion in MECP2 gene. Cultured...
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