Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23675
Abstract: The genetic etiologies of many rare disorders, including early infantile epileptic encephalopathies, are largely undiagnosed. A 6‐year‐old girl was admitted to the National Institutes of Health Undiagnosed Diseases Program with profound intellectual disability, infantile‐onset seizures,… read more here.
Keywords: uniparental disomy; microdeletion; homozygous microdeletion; early infantile ... See more keywords
Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome
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DOI: 10.1002/mdc3.12768
Abstract: Myoclonus dystonia (MD) is a rare movement disorder characterized by alcohol-responsive myoclonic jerks, dystonia, and psychiatric complaints, which is often associated with an autosomal-dominant pathogenic variant (mutation) in the epsilon-sarcoglycan gene (SGCE), located on chromosome… read more here.
Keywords: uniparental disomy; mupd7; silver syndrome; russell silver ... See more keywords
Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.07.018
Abstract: Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no… read more here.
Keywords: uniparental disomy; deletion; 11q23 qter; two siblings ... See more keywords
Acquired uniparental disomy in chromosome 6p as a feature of relapse after T-cell replete haploidentical hematopoietic stem cell transplantation using cyclophosphamide tolerization
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DOI: 10.1038/bmt.2016.324
Abstract: Acquired uniparental disomy in chromosome 6p as a feature of relapse after T-cell replete haploidentical hematopoietic stem cell transplantation using cyclophosphamide tolerization read more here.
Keywords: uniparental disomy; disomy chromosome; acquired uniparental; transplantation ... See more keywords
Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy
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DOI: 10.1038/nature21372
Abstract: Uniparental disomy (UPD), in which an individual contains a pair of homologous chromosomes originating from only one parent, is a frequent phenomenon that is linked to congenital disorders and various cancers. UPD is thought to… read more here.
Keywords: uniparental disomy; untimely expression; expression gametogenic; gametogenic genes ... See more keywords
Accurate detection of clinically relevant uniparental disomy from exome sequencing data
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0704-x
Abstract: Purpose Uniparental disomy (UPD) is the rare occurrence of two homologous chromosomes originating from the same parent and is typically identified by marker analysis or single-nucleotide polymorphism (SNP)-based microarrays. UPDs may lead to disease due… read more here.
Keywords: uniparental disomy; exome sequencing; sequencing data; clinically relevant ... See more keywords
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata
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DOI: 10.1097/mcd.0000000000000419
Abstract: We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the… read more here.
Keywords: uniparental disomy; mechanism linked; disomy mechanism; linked chondrodysplasia ... See more keywords
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18
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DOI: 10.1111/cge.14045
Abstract: The TRAPPC11 gene encodes a large TRAPPC11 protein containing the foie gras and gryzun domain. Only 13 TRAPPC11 pathogenic variants have been identified. We report the clinical phenotype and molecular features of a child (with… read more here.
Keywords: segmental uniparental; trappc11 truncating; homozygous trappc11; uniparental disomy ... See more keywords
Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected
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DOI: 10.1136/bcr-2018-228662
Abstract: Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Maternal UPD of the chromosome 14 (UPD(14)mat, Temple syndrome) is a rare… read more here.
Keywords: uniparental disomy; growth hormone; provocative tests; chromosome ... See more keywords
Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking
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DOI: 10.1159/000477520
Abstract: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause… read more here.
Keywords: uniparental disomy; disomy chromosome; heteroupd isoupd; chromosome microarray ... See more keywords
Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China
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DOI: 10.1186/s13039-019-0420-x
Abstract: BackgroundPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region.Methods3331 individuals was recruited from June 2013 to December 2016… read more here.
Keywords: uniparental disomy; pws; analysis; willi syndrome ... See more keywords