Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes
نویسندگان
چکیده
منابع مشابه
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder
BACKGROUND Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we perfo...
متن کاملThe complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
OBJECTIVE To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome rearrangements, map the translocation breakpoints, and report detectable genomic imbalances. METHODS DNA microarrays were used with a resolution of 1 Mb for the detailed genome-wide analysis of the pa...
متن کاملSperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers.
INTRODUCTION Somatic chromosomal rearrangements that occur in infertile males are thought to be one of the major genetic factors influencing male infertility. The objective of this retrospective study was to evaluate sperm parameters in a group of patients with balanced translocations. MATERIAL AND METHODS We analyzed semen of 84 balanced somatic translocation carriers [35 Robertsonian transl...
متن کاملEvidence for Correlation of Fragile Sites and Chromosomal Breakpoints in Carriers of Constitutional Balanced Chromosomal Rearrangements
A molecular cytogenetic study of 251 cases with balanced chromosomal rearrangements detected due to infertility of unclear origin or in prenatal diagnostics with a later normal outcome was done. Balanced translocations (127 cases), inversions (105 cases), insertions (three cases), balanced complex rearrangements (four cases), or derivative chromosomes leading to no imbalance (12 cases), were st...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2017
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000477084