نتایج جستجو برای: chromosome micro deletions
تعداد نتایج: 248731 فیلتر نتایج به سال:
background: in recent studies, partial deletions of the azoospermia factor c region (azfc) on the y-chromosome have been detected in males with infertility problems. however, there has been a lot of debate about their significance. in order to study such deletions, a simple but accurate method for their detection was applied in this study. methods: we present data obtained from the multiplex li...
Background: Many advances have been made in reproductive medicine yet the spontaneous loss of a pregnancy remains the most common complication of pregnancy. The aetiology of spontaneous recurrent pregnancy loss (RPL) is multifactorial. Y chromosome microdeletions are found in approximately 7% of men with low sperm counts and, compared to the general population, a higher frequency of spontaneous...
Background and Aim:-thalassemia is the most common inherited disorder of hemoglobin (Hb) synthesis in the world. Alpha thalassemia most frequently results from the loss of one (- ) or both (- -) of the duplicated genes () on chromosome 16. Carriers of deletional forms of -thalassemia (-/- /-, or --/) are clinically normal but have a mild hypochromic, microcytic anemia. C...
Introduction & Objective: Male factor is the major cause of infertility in 20% of cases (WHO). There are known etiologies for 70% of cases .However, 30% of infertility cases are of idiopathic origin. The Y chromosome and micro deletion of the long arm of the Y chromosome (Yq) in three regions (AZFa, AZFb ,AZFc ) are associated with spermatogenic failure and is a major etiology for oligo and a...
Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with renal and central nervous system malformations, cleft palate, severe ocular anomalies, and cutis laxa, in addition to the previously described clinical data present in other cases with deletions encompassing this region, such as developm...
It is now agreed that 10-25% of infertile men with azoospermia have submicroscopic deletions of the Y chromosome long ann (yq), consistent with the proposed location of the azoospermia locus (AZF) in Yq 11.23. However, it is not known whether Yq microdeletions are unique to men with azoospermia or whether they are also observed in infertile men with less severe defects of spermatogenesis (o...
Male fertility is an orchestrated interplay of loci on the Y chromosome with a number of genes from across the other chromosomes. In this context, micro-deletions in the Y chromosome have been correlated with spermatogenic failure often leading to infertility. However, causes of infertility in the patients with the normal spermiogram have remained unclear and therefore pose another level of cha...
Disease name and synonyms Diagnosis criteria / definition Differential diagnosis Frequency Clinical description Molecular characterization Management References
In the past years concept of synthetic lethality, where inhibition certain gene products can act as specific vulnerabilities for cancer cells with a particular genetic makeup, was proposed to guide new targeted therapies. With this in mind, we aimed identify target chromosome 8p deletions.
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