Search
Search Results
-
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases
BackgroundDistal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavioral issues, and...
-
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
BackgroundX-linked methyl-CpG-binding protein 2 ( MECP2 ) duplication syndrome is prevalent in approximately 1% of X-linked intellectual disabilities....
-
Genetic analysis of a pedigree with MECP2 duplication syndrome in China
BackgroundMECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It is characterized by delayed or...
-
Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report
BackgroundTourette syndrome (TS) is a complex neurodevelopmental disorder (NDD) characterized by multiple chronic involuntary motor and vocal tics...
-
An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report
BackgroundPathogenic variation of the MECP2 gene presents mostly as Rett syndrome in females and is extremely rare in males. Most male patients with...
-
A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
BackgroundMarfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder affecting the cardiovascular, skeletal, and ophthalmic...
-
IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation
PurposeBesides their developmental and neurological phenotype, most patients with MECP2/IRAK1 duplication syndrome present with recurrent and severe...
-
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
BackgroundRett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene ( MECP2 ). MeCP2 is...
-
Cortisol profiles and clinical severity in MECP2 duplication syndrome
BackgroundMECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder primarily affecting males which is caused by interstitial chromosomal...
-
Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review
BackgroundCopy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years,...
-
NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
BackgroundAutism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H...
-
CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis
AbstractThis review is devoted to a comprehensive analysis of DNA copy number variations (CNVs) identified in patients with neurodevelopmental...
-
The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Hydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial...
-
Human Genetics of Ventricular Septal Defect
Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac...
-
A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder
Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental diseases, with an approximate prevalence rate of 1 in 59. From a...
-
Copy Number Variations and Schizophrenia
Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to...
-
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children
BackgroundGlobal developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may...
-
Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency
BackgroundPartial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a...
-
X-Linked CNV in Pathogenetics of Intellectual Disability
AbstractThe review considers monogenic and chromosomal mutations associated with X-linked intellectual disability. Peculiarities of the development...
-
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility
Currently, routine genetic investigation for male infertility includes karyoty** analysis and PCR for Y chromosomal microdeletions to provide...
