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Uniparental Disomy

The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
Also Known As:
Disomies, Uniparental; Heterodisomies, Uniparental; Heterodisomy, Uniparental; Isodisomies, Uniparental; Uniparental Disomies; Uniparental Heterodisomies; Uniparental Isodisomies; Disomy, Uniparental; Uniparental Heterodisomy; Uniparental Isodisomy
Networked: 327 relevant articles (3 outcomes, 20 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Excoriation Disorder
2. Aneuploidy (Aneuploid)
3. Uniparental Disomy
4. Angelman Syndrome (Syndrome, Angelman)
5. Prader-Willi Syndrome (Syndrome, Prader-Willi)

Experts

1. Chen, Chih-Ping: 30 articles (07/2022 - 09/2010)
2. Wang, Wayseen: 30 articles (07/2022 - 09/2010)
3. Chern, Schu-Rern: 29 articles (07/2022 - 09/2010)
4. Chen, Shin-Wen: 24 articles (07/2022 - 04/2017)
5. Wu, Peih-Shan: 22 articles (07/2022 - 12/2012)
6. Wu, Fang-Tzu: 14 articles (07/2022 - 11/2019)
7. Pan, Chen-Wen: 13 articles (07/2022 - 09/2010)
8. Chen, Yun-Yi: 10 articles (07/2022 - 05/2020)
9. Lee, Chen-Chi: 7 articles (01/2022 - 09/2010)
10. Town, Dai-Dyi: 7 articles (07/2021 - 12/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Uniparental Disomy:
1. OligonucleotidesIBA
2. Risperidone (Risperdal Consta)FDA LinkGeneric
3. DiamondIBA
4. Cysteine (L-Cysteine)FDA Link
5. Topiramate (Topamax)FDA LinkGeneric
6. DNA (Deoxyribonucleic Acid)IBA
7. Genetic Markers (Genetic Marker)IBA
8. snRNP Core ProteinsIBA
9. NucleotidesIBA
01/15/2005 - "Uniparental disomy studies using seven informative polymorphic nucleotide repeat markers from 14q and 21q confirmed biparental inheritance of the number 14 and 21 chromosomes for each brother, and indicate that they and the paternal aunt, all of whom inherited the der(14), are monosomic for proximal 21q and trisomic for proximal 14q. "
10/01/2020 - "Four major molecular alterations (epimutations, uniparental disomies, copy number variants, single nucleotide variants) have been identified, but their frequencies vary between SRS and BWS. "
08/01/2018 - "Recently, single nucleotide polymorphasim array (SNP-A) are employed to detect chromosomal CNVs and uniparental disomies (UPDs) which are significant for illumination of the pathogenetics and prognosis of MDS. "
07/01/2016 - "Molecular analysis of fetus 2 and 3 included (a) bidirectional sequencing of exon 8 of the POR gene after amplification of the specific locus by polymerase chain reaction, to detect single nucleotide variants (SNVs) and (b) high resolution comparative genomic hybridization (CGH) positive single nucleotide polymorphism array CGH (aCGH) analysis to detect copy number variants (CNVs), copy neutral areas of loss of heterozygosity and uniparental disomy. "
01/01/2016 - "However, filtering for genes carrying two rare sequence variations detected 13 homozygous single nucleotide variants (SNV), all being located on chromosome 1. Further analysis strongly suggested that this finding might be best explained by uniparental disomy of chromosome 1. Because NTRK1 is also located on chromosome 1, we re-evaluated WES data and detected a novel intronic sequence variation at position c.2188-12 C>A, homozygously because of uniparental disomy. "
10. Growth Hormone (Somatotropin)IBA

Therapies and Procedures

1. Therapeutics
2. Ligation
3. Fetal Therapies (Fetal Therapy)
11/01/2007 - "Each bibliography is divided into 17 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. "
02/01/2001 - "Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. "
01/01/2001 - "Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. "
12/01/2000 - "Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. "
09/01/2000 - "Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. "
4. Hematopoietic Stem Cell Transplantation
5. Bariatric Surgery