Search
Search Results
-
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....
-
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases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...
-
Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family
PurposeThis paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family.
Case presentationThe proband, a 23-year-old...
-
A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review
BackgroundDistal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few...
-
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...
-
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...
-
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report
BackgroundPhelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by...
-
Rectal duplication in adult presented with constipation: a case report and literature review
BackgroundRectal duplication is a rare congenital disease which is mostly diagnosed during childhood. Diagnosis in adulthood could be obscured as the...
-
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
The 16p11.2 deletion syndrome is a clinically heterogeneous disorder, characterized by developmental delay, intellectual disability, hyperphagia,...
-
Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations
BackgroundCopy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to...
-
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...
-
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,...
-
-
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC
PurposeInborn errors of the IL-17A/F-responsive pathway lead to chronic mucocutaneous candidiasis (CMC) as a predominant clinical phenotype, without...
-
Astrocytic Gap Junctions Contribute to Aberrant Neuronal Synchronization in a Mouse Model of MeCP2 Duplication Syndrome
Abnormal synchronous neuronal activity has been widely detected by brain imaging of autistic patients, but its underlying neural mechanism remains...
-
A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3
BackgroundMolecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the...
-
A rare large duplication of MLH1 identified in Lynch syndrome
BackgroundThe most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR)...
-
Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype
BackgroundCopy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities (UBCA)...
-
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
BackgroundReports of dual carriers of pathogenic BRCA1 variants in trans are extremely rare, and so far, most individuals have been associated with...
-
11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies
BackgroundPotocki–Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region...
