SOX3 duplication: a genetic cause to investigate in fetuses with neural tube defects.

08:00 EDT 12th July 2019 | BioPortfolio

Summary of "SOX3 duplication: a genetic cause to investigate in fetuses with neural tube defects."

Neural tube defects (NTDs) are one of the most common congenital anomalies caused by a complex interaction of many genetic and environmental factors. In about 10% of cases, NTDs are associated with genetic syndromes or chromosomal anomalies. Among these, SOX3 duplication has been reported in some isolated cases. The phenotype associated with this microduplication is variable and includes myelomeningocele (MMC) in both sexes as well as hypopituitarism and cognitive impairment in males. In order to determine the prevalence of this anomaly in fetuses with MMC, a retrospective cohort of fetuses with MMC was analyzed by qPCR targeting SOX3 locus.


Journal Details

This article was published in the following journal.

Name: Prenatal diagnosis
ISSN: 1097-0223


DeepDyve research library

PubMed Articles [15055 Associated PubMed Articles listed on BioPortfolio]

Invasive molecular prenatal diagnosis of alpha and beta thalassemia among Hakka pregnant women.

This study is a retrospective analysis of the prenatal genetic diagnosis results of fetuses with high risk of major thalassemia to provide information for clinical genetic counseling and to better con...

Prenatal brain imaging for predicting postnatal hydrocephalus treatment in fetuses that had neural tube defect repair.

To determine if fetal brain imaging in fetuses that underwent prenatal repair of neural tube defect (NTD) can predict the need for postnatal hydrocephalus treatment (HT) in the first year postpartum.

Early prenatal detection of hypertrophic cardiomyopathy in Noonan syndrome: A case to remember.

Hypertrophic cardiomyopathy (HCM) is a significant clinical problem associated with sudden death. HCM is very rare in fetuses with a poor outcome. Only isolated cases have been reported, for example, ...

Schrödinger's Fetus.

This paper defends and develops Elizabeth Harman's Actual Future Principle with a concept called Schrödinger's Fetus. I argue that all early fetuses are Schrödinger's Fetuses: those early fetuses th...

Effects of gene duplication, epistasis, recombination and gene conversion on the fixation time of compensatory mutations.

Gene duplication is one of the major mechanisms of molecular evolution. Gene duplication enables copies of a gene to accumulate mutations through functional redundancy. If a gene encodes a specific pr...

Clinical Trials [4198 Associated Clinical Trials listed on BioPortfolio]

A Multicenter, Open-label, Pilot Study of TAK-935 (OV935) in Participants With 15Q Duplication Syndrome or CDKL5 Deficiency Disorder

The purpose of this study is to investigate the effect of TAK-935 (OV935) on the frequency of motor seizures for participants with 15q duplication syndrome or CDKL5 deficiency disorder thr...

Effectiveness of Neural Therapy in Patients With Fibromiyalgia

Neural therapy is a regulation therapy that tries to correct this underlying autonomic dysfunction. In neural therapy; local painful areas, trigger points and symptomatic segments are incl...

Antenatal Detection by Array CGH Genomic Rearrangements Unbalanced Front Uninsulated Thick Neck or a Combination of Two Signs of Ultrasound Calling Normal Karyotype

This is the first study with a real diagnostic and prognostic focus in prenatal. In addition to this innovative aspect, the identification of cryptic imbalances in fetuses with malformativ...

Ultrasound Monitoring of Fetuses With Vascular Intra-uterine Growth Restriction (IUGR) Using the Isthmus Systolic Index (ISI): Feasibility, Comparison to Normal Fetuses and Association With Perinatal Mortality

Fetuses with IUGR, there is a correlation between Doppler indices of cardiovascular function and perinatal mortality. An index of systolic flow velocities at the aortic isthmus (ISI) has p...

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for pati...

Medical and Biotech [MESH] Definitions

Processes occurring in various organisms by which new genes arise, i.e. the duplication of a single gene. In contiguous gene duplication, the duplicated sequence coexists within the boundaries set by the start and stop signals for protein synthesis of the original, resulting in a larger transcription product and protein at the expense of the preexisting protein. In discrete gene duplication, the duplicated sequence is outside the start and stop signals, resulting in two independent genes (GENES, DUPLICATE) and gene products. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)

An early embryonic developmental process of CHORDATES that is characterized by morphogenic movements of ECTODERM resulting in the formation of the NEURAL PLATE; the NEURAL CREST; and the NEURAL TUBE. Improper closure of the NEURAL GROOVE results in congenital NEURAL TUBE DEFECTS.

Selective abortion of one or more embryos or fetuses in a multiple gestation pregnancy. The usual goal is to improve the outcome for the remaining embryos or fetuses.

Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.

The two longitudinal ridges along the PRIMITIVE STREAK appearing near the end of GASTRULATION during development of nervous system (NEURULATION). The ridges are formed by folding of NEURAL PLATE. Between the ridges is a neural groove which deepens as the fold become elevated. When the folds meet at midline, the groove becomes a closed tube, the NEURAL TUBE.

Quick Search

DeepDyve research library

Relevant Topic

Congenital Diseases
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...

Searches Linking to this Article