Prenatal Detection of Cryptic Genomic Rearrangement: Role of Detailed Family History, Pedigree Analysis and Advanced Genomic Technologies
ثبت نشده
چکیده
Submit Manuscript | http://medcraveonline.com Abbreviations: ACTG1: Actin Gamma 1; ARHGDIA: Rho-GDP Dissociation Inhibitor Alpha; BDMR: Brachydactyly-Mental Retardation Syndrome; CMS: Chromosomal Microarray; CNV: Copy Number Variant; FISH: Fluorescence in situ Hybridization; FSCN2: Fascin Actin-Bundling Protein 2, Retinal; TWIST2: Twist-related Protein 2; HDAC4: Histone Deacetylase 4; GPC1: Glypican-1; GPR3: G-Protein Coupled Receptor 3; STK25: Serine/ Threonine Kinase 25, NT: Nuchal Translucency
منابع مشابه
P-244: Analysis of Genomic and Cell Free DNA of A let-7 microRNA Binding Site of KRAS Gene Polymorphisms in Endometriosis
Background: Endometriosis is one of the most common benign gynecological diseases which is characterized by endometriallike tissue growing outside the uterine cavity. Although the pathology of endometriosis remains unknown, the genetic predisposition plays an apparent role. Several genes have been contributed to endometriosis, but it seems KRAS has a crucial role, because its activation results...
متن کاملSubtelomeric Rearrangements in Patients with Recurrent Miscarriage
Objective The Subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but have also been suspected to be responsible for unexplained recurrent miscarriage (RM). We have noticed a higher risk of subtelomeric translocations in association with CA and ID. Such rearrangements can go unnoticed through con...
متن کاملChromosomal Abnormalities in Regions 8q22 and 13q32 Associated with Different Disorders in an Iranian Family
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...
متن کاملThe Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...
متن کاملApplication of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports
Microarray-based comparative genomic hybridization (array CGH) is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances). Th...
متن کامل