Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MCD.0000000000000303 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.
Eur J Med Genet
December 2022
Department of Pediatric Neurology; Member of ERN-EpiCARE; Rare Disease Reference Centre for Intellectual Disability, University Hospitals of Lyon (HCL), And University Lyon1, Lyon, France.
Xq25 microduplication involving exclusively STAG2 is a new distinctive cohesinopathy including mild to moderate intellectual disability, speech delay and facial dysmorphism. Seizures seem to be scarce, but detailed seizure type descriptions are missing. We report the case of an 8-year-old boy with mild intellectual disability and eyelid myoclonia with onset at age of 3 years, initially misinterpreted as tics.
View Article and Find Full Text PDF[Genetic analysis and prenatal diagnosis of a fetus with Xq25 microduplication].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2022
Prenatal Diagnostic Center, Guangzhou Women and Children' s Medical Centre, Guangzhou, Guangdong 510623, China.
Objective: To explore the genetic basis for a fetus with structural brain abnormalities.
Methods: The karyotypes of the fetus and its parents were analyzed by conventional G-banding. Chromosome microarray analysis (CMA) was carried out to detect chromosomal microdeletion and microduplication.
Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
Stem Cell Res
March 2021
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address:
Xq25 microduplication syndrome is a recognized syndrome presenting intellectual disability and distinctive facial appearance. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of an 8-year-old boy with Xq25 Microduplication Syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25.
View Article and Find Full Text PDFXq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature.
Clin Dysmorphol
April 2020
Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre, 'Federico II' University.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Hum Mol Genet
December 2015
School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia,
Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the genetics of intellectual disability (ID). For many CNVs, and copy number gains in particular, the responsible dosage-sensitive gene(s) have been hard to identify.
View Article and Find Full Text PDF