نتایج جستجو برای: balanced chromosomal rearrangement
تعداد نتایج: 116705 فیلتر نتایج به سال:
Balanced chromosomal rearrangement (or balanced chromosome abnormality, BCA) is a common chromosomal structural variation. Next-generation sequencing has been reported to detect BCA-associated breakpoints with the aid of karyotyping. However, the complications associated with this approach and the requirement for cytogenetics information has limited its application. Here, we provide a whole-gen...
BACKGROUND Premature ovarian failure (POF) is defined as amenorrhoea for more than 6 months, occurring before the age of 40, with an FSH serum level higher than 40 mIU/ml. Cytogenetically visible rearrangements of the X chromosome are associated with POF. Our hypothesis was that cryptic Xq chromosomal rearrangements could be an important etiological contributor of POF. METHODS Ninety POF wome...
In outsourcing, management seeks to achieve costs savings, operational efficiency, customer satisfaction, and/or company growth. We integrate the ANP with the perspectives in Balanced Scorecard (BSC) for IT outsourcing decision making. The proposed BSC-ANP model helps evaluate the impact of decision on firm performance and confirms the existence of indicator interactions.
background: cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (rsas). the aim of this study was to detect chromosome abnormalities in couples with rsas and to compare our results with those reported previously. materi...
The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschh...
Structural and numerical chromosomal abnormalities are common in early developing embryos, and these abnormalities may cause spontaneous abortions and implantation failure. The reproductive risk of carriers with structural chromosomal abnormalities depends on the breakpoint positions, the segregation patterns and the sex of the carrier. These carriers have a lower chance of producing normal or ...
Chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. In human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .Our proband is an infant who had died 4 hours after birth due to a variety of abno...
pericentric inversions of chromosome 9 are among the most frequent chromosomal rearrangement in human. a few cytogeneticists consider inversions of chromosome 9 as a normal variant. however, many reports in the recent literature link pericentric inversions of chromosome 9 with infertility, recurrent abortions, and a number of other abnormal conditions. we report a case of homozygosity pericentr...
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