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Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases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...
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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....
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Moya moya vasculopathy and MECP2 duplication syndrome
BackgroundMoya moya type vasculopathy (MMV) is a rare disorder in which there is narrowing of bilateral intracranial carotid arteries (Scott and...
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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...
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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,...
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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...
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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...
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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...
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A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 ( MECP2 )...
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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...
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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...
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Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic teratomas of the ovary identified by array comparative genomic hybridization may explain teratoma characteristics in chondrogenesis and osteogenesis
BackgroundTeratomas are a common type of germ cell tumor. However, only a few reports on their genomic constitution have been published. The study of...
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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...
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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...
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X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature
BackgroundPremature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most...
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Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
BackgroundChromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental...
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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...
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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...
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Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review
Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability...
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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...
