نتایج جستجو برای: chromosomal aberration
تعداد نتایج: 53135 فیلتر نتایج به سال:
The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromoso...
Down’s syndrome (DS) is the most frequent chromosomal aberration among newborns, with an incidence of 1/660 live births; trisomy 21 occurs in 95% of cases due to maternal meiosis I non-disjunction, resulting in three full copies of chromosome 21 in each cell. Of these cases, 4% are due to parental/de novo translocation and 1% is due to mosaicism. Frequency of congenital heart defects (CHDs) in ...
Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a ...
Although human papillomavirus was identified as an aetiological factor in cervical cancer, the key human gene drivers of this disease remain unknown. Here we apply an unbiased approach integrating gene expression and chromosomal aberration data. In an independent group of patients, we reconstruct and validate a gene regulatory meta-network, and identify cell cycle and antiviral genes that const...
Though the basic cause or causes responsible for the chromosomal aberration in mongolism are still obscure, it is generally agreed that the standard trisomic karyotype in this condition originates in the ovary. Measures of ovarian function could therefore be helpful in elucidating some of the factors involved. In this connexion, an opportunity arose to compare the stated age of onset of menstru...
A recent pilot study that we performed on 12 individuals who are involved in the cultivation and processing of grains and legumes suggests to us that we may have in hand a relatively quick, inexpensive, and highly sensitive assay that identifies individuals at increased risk for the development of lymphoid malignancy. The generation of this assay evolved from our interest in the causes and cons...
Objective: Approximately 15-20% of clinically recognizable pregnancies end in spontaneous abortion. The incidence of chromosomal abnormalities in those abortions is as high as 50%.A modest but clinically important proportion of spontaneous abortions is caused by a balanced chromosomal aberration in one o...
Intracytoplasmic sperm injection (ICSI) has become the method of choice to treat human male infertility. One of the outstanding problems associated with this technique is our current lack of knowledge concerning the effect of sperm capacitation and motility upon the subsequent development of oocytes following ICSI. In the present study, we first examined the capacitation state of sperm exhibiti...
epilepsy is one of the most common neurological disorders. studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. moreover, some chromosomal aberration including ring chromosomes will result i...
objective: approximately 15-20% of clinically recognizable pregnancies end in spontaneous abortion. the incidence of chromosomal abnormalities in those abortions is as high as 50%.a modest but clinically important proportion of spontaneous abortions is caused by a balanced chromosomal aberration in one of the parents. this results from the production of gametes and embryos with unbalanced chrom...
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