نتایج جستجو برای: balanced chromosomal rearrangement
تعداد نتایج: 116705 فیلتر نتایج به سال:
Atrial septal defect 46, XY, inv (8) (p23q13) mat Cleft palate Figure 2. Strategy for isolation of disease genes using disease associated balanced chromosome rearrangements. A. Karyotyping of a patient with CHD reveals a balanced chromosomal rearrangement (e.g. an inversion). B. Bacterial artifi cial chromosome (BAC) clones are selected in the breakpoint area and used as template for FISH probe...
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. Materia...
Chromosomal abnormality is the most common genetic cause of male infertility, particularly in cases of azoospermia, oligozoospermia, and recurrent spontaneous abortion. Chromosomal rearrangement may interrupt an important gene or exert position effects. The functionality of genes at specific breakpoints, perhaps with a specific role in spermatogenesis, may be altered by such rearrangements. Str...
Background: Acute lymphoblastic leukemia (ALL) is the most common form of childhood cancer leading to cancer-related death in children. Most infants with ALL harbor recurring structural chromosomal rearrangements that are important initiating events in leukemogenesis but are insufficient to explain the biology and heterogeneity of the disease. Mixed-lineage leukemia-rearrangement (MLL-rearrange...
As part of ongoing studies on the RET rearrangement frequency in children with papillary thyroid carcinoma (PTC) after their exposure to radioactive iodine after the Chernobyl reactor accident, new methods for the detection of novel types of RET rearrangements are being developed. In this study, an improved reverse transcription-PCR strategy is used successfully to identify a new type of RET re...
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISC...
Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...
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