نتایج جستجو برای: balanced chromosomal rearrangement
تعداد نتایج: 116705 فیلتر نتایج به سال:
Spontaneous abortion (SAb) is the most common complication of early pregnancy. Numerous risk factors are associated with an increased risk of pregnancy loss such as: Blighted ovum. The aim of this study was to determine the frequency of balanced chromosomal translocations in couples with a history of recurrent spontaneous abortions and ultrasound diagnosed blighted ovum. Sixty Eight couples wit...
Abstract Study question To evaluate diagnosis value of optical genome mapping (OGM) for potential preimplantation genetic testing in chromosomal structural rearrangement (PGT-SR) patients with cryptic rearrangement. Summary answer OGM is an efficient method detection. However, SVs near telomere and centromere regions could hardly be reported this method. What known already About 5∼10% infertili...
Investigations of apparently balanced chromosomal rearrangements in patients with abnormal phenotype by molecular cytogenetics tools, especially by array CGH, revealed a proportion of unsuspected imbalances. It was estimated recently that 40% of apparently balanced de novo translocations with abnormal phenotype were associated with cryptic deletion. We explored 47 unrelated mental retardation p...
Background: Spontaneous abortion (SAb) is the most common complication of early pregnancy. Numerous risk factors are associated with an increased risk of pregnancy loss such as: Maternally age, previous spontaneous abortion, prolonged ovulation to implantation, Gravidity, Interval Prolonged time to pregnancy, Balanced chromosomal translocations and Genetic disorders. The aim of this study was t...
BACKGROUND Balanced chromosomal rearrangements represent one of the most frequent indications for preimplantation genetic diagnosis (PGD). Although fluorescence in situ hybridization (FISH) has been successfully employed for diagnosis in such cases, this approach usually restricts assessment of the chromosomes involved in the rearrangement. Furthermore, with FISH-based strategies, it is sometim...
background chromosomal abnormality plays an important role in different types of miscarriages. objectives the present study was designed to investigation chromosomal anomalies in three groups of couples with recurrent abortion (ra), spontaneous abortion (sa) and still birth (sb). patients and methods in this retrospective study, the frequency of chromosomal aberrations was investigated among 26...
Background & Objective: Soft tissue sarcomas (STS) constitute an uncommon and heterogeneous group of tumors of mesenchymal origin and various cytogenetic abnormalities ranging from distinct genomic rearrangements, such as chromosomal translocations and amplifications, to more intricate rearrangements involving multiple chromosomes. Fluorescence in situ...
Abstract Study question What are breakpoint characteristics of ABCR carriers? the genetic risks carriers caused by chromosome rearrangements? Summary answer We analyzed ABCR's breakpoints and found that heterogeneous deletion some AD disease-related genes may not result in clinical phenotype. is known already ABCRs common chromosomal abnormalities. People with generally lack any visible abnorma...
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