Topics

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.

07:00 EST 22nd November 2019 | BioPortfolio

Summary of "Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation."

Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation with US suspicion of familial Dandy-Walker spectrum malformation, using Next Generation Sequencing approach in prenatal diagnosis.

Affiliation

Journal Details

This article was published in the following journal.

Name: Molecular genetics & genomic medicine
ISSN: 2324-9269
Pages: e1054

Links

DeepDyve research library

PubMed Articles [4648 Associated PubMed Articles listed on BioPortfolio]

Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.

In light of the prospective Prenatal Assessment of Genomes and Exomes (PAGE) study, this paper aimed to determine the additional costs of using exome sequencing (ES) alongside or in place of chromosom...

Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies.

 We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a ...

From sub-microscopic variants to the resolution of a single base pair: Exome sequencing in prenatal diagnosis.

PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.

In this study, we describe the development of a PCR-free whole exome sequencing method. Using this method, 2 μg DNA was sufficient for library preparation for whole exome sequencing. Furthermore, the...

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.

POLG2 associated disorders belong to the group of mitochondrial DNA (mtDNA) diseases and present with a heterogeneous clinical spectrum, various age of onset, and disease severity. We report a 39-year...

Clinical Trials [1301 Associated Clinical Trials listed on BioPortfolio]

Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum

Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases. Prenatal counseling is then challenging because of u...

Clinical Utility of Prenatal Whole Exome Sequencing

The investigator aims to examine the clinical utility of WES, including assessment of a variety of health-related and reproductive outcomes in undiagnosed prenatal cases.

Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force

The MilSeq Project is a nonrandomized, prospective pilot study of whole exome sequencing (WES) in the U.S. Air Force. The purpose of this study is to explore the implementation of WES into...

Precise Therapy for mCRPC Patients Through Whole Exome Sequencing(PTtWES)

Through gene sequencing of the patient's tissue, to figure out the genomic characteristics of patients with advanced disease and guide the treatment of patients

Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs

16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecul...

Medical and Biotech [MESH] Definitions

Techniques to determine the complete complement of sequences of all EXONS of an organism or individual.

Care provided the pregnant woman in order to prevent complications, and decrease the incidence of maternal and prenatal mortality.

Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.

That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.

Process whereby a cell, bodily structure, or organism (animal or plant) receives or detects a gravity stimulus. Gravity sensing plays an important role in the directional growth and development of an organism (GRAVITROPISM).

Quick Search


DeepDyve research library

Relevant Topics

DNA sequencing
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...

Radiology
Radiology is the branch of medicine that studies imaging of the body; X-ray (basic, angiography, barium swallows), ultrasound, MRI, CT and PET. These imaging techniques can be used to diagnose, but also to treat a range of conditions, by allowing visuali...

Neurology - Central Nervous System (CNS)
Alzheimer's Disease Anesthesia Anxiety Disorders Autism Bipolar Disorders Dementia Epilepsy Multiple Sclerosis (MS) Neurology Pain Parkinson's Disease Sleep Disorders Neurology is the branch of me...


Searches Linking to this Article