نتایج جستجو برای: chromosome microdeletion
تعداد نتایج: 120218 فیلتر نتایج به سال:
BACKGROUND The purpose of the study was to investigate the frequencies and types of Y chromosome microdeletions in infertile men and to analyze the relationship between the levels of reproductive hormones and Y microdeletions. METHODS A total of 1,226 infertile men were screened for Y chromosome microdeletions using multiplex PCR assay. Karyotype analysis was performed on peripheral blood lym...
____________________________________________________________ 9 Introduction ________________________________________________________ 11 Review of the literature ________________________________________________ 12 1 Early human embryonic development _______________________________ 12 1.1 Fertilization __________________________________________________ 12 1.2 Implantation ________________________...
The 22q11.2 microdeletion syndrome is one of the common microdeletion syndromes seen among children with Congenital Heart Defects. Population based studies have shown the prevalence of 22q11.2 microdeletion syndrome range from 1 in 4000 to 1 in 6000 live births.1,2 Over 80% of children with 22q11.2 microdeletion syndrome have Congenital Heart Defects.1,3,4 Diagnosis of 22q11.2 microdeletion syn...
BACKGROUND The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of ...
Triplex Real-time Polymerase Chain Reaction Optimization for AZF Y-chromosome Microdeletion Analysis
BACKGROUND: It is known that 22q11.2 microdeletion is a submicroscopic chromosomal anomaly with cardiac and extra-cardiac manifestations. The prevalence and manifestations in north India have not been well characterized. OBJECTIVES: This study was designed to determine the prevalence of 22q11.2 microdeletion in congenital cardiac malformation cases referred for surgery from north India and to a...
Williams-Beuren syndrome (WBS) is a microdeletion disorder caused by heterozygous loss of approximately 1.5-Mb pairs of DNA from chromosome 7. Patients with WBS have a characteristic constellation of medical and cognitive findings, with a hallmark feature of generalized arteriopathy presenting as stenoses of elastic arteries and hypertension. Human and mouse studies establish that defects in th...
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