... (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent ... "Uniparental disomy". Department of Medical Genetics, University of British Columbia. Archived from the original on 2002-06-17 ... "Meiosis: Uniparental Disomy". Retrieved 29 February 2016. Angelman Syndrome, Online Mendelian Inheritance in Man "OMIM Entry ... ISBN 0-8153-4183-0. King DA (2013). "A novel method for detecting uniparental disomy from trio genotypes identifies a ...

Uniparental Disomy Test: Samples from fetus or child and both parents are needed for analysis. Chromosome of interest must be ... Normally, a total uniparental disomy of the chromosome 6 is evidenced, but partial one can be identified. Therefore, genetic ... Therefore, inheriting two copies of the gene region from one's father (either through uniparental disomy, or receiving two ... "UNIPD - Clinical: Uniparental Disomy". www.mayomedicallaboratories.com. Retrieved 2017-11-07. Lemelman, Letourneau & Greeley ...

A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies ... "Uniparental disomy in cartilage-hair hypoplasia". European Journal of Human Genetics. 5 (1): 35-42. doi:10.1159/000484729. PMID ...

Uniparental paternal disomy in Angelman's syndrome. Lancet. 1991 Mar 23;337(8743):694-7. PMID 1672177. Pembrey M. Imprinting ...

This phenomenon is called paternal uniparental disomy (UPD). People with paternal UPD for chromosome 15 have two copies of the ... This phenomenon is called maternal uniparental disomy. Because some genes are normally active only on the paternal copy of this ... "Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy". ...

Chávez B, Valdez E, Vilchis F (2000). "Uniparental disomy in steroid 5alpha-reductase 2 deficiency". J. Clin. Endocrinol. Metab ...

1998). "PEG1 expression in maternal uniparental disomy 7". Ann. Genet. 40 (4): 211-5. PMID 9526615. Riesewijk AM, Blagitko N, ...

This paper proposed four mechanisms for uniparental disomy, each of which has since been shown to occur. His group co- ... In 1988, Beaudet's laboratory published a paper regarding the mechanism by which uniparental disomy might cause certain types ... "Uniparental disomy as a mechanism for human genetic disease". American Journal of Human Genetics. 42 (2): 217-226. PMC 1715272 ...

Furthermore, uniparental paternal disomy (UPD) of KCNQ1OT1 is strongly associated with Wilms' tumor. In fact, three out of four ... Henry I, Bonaiti-Pellié C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C (June 1991). "Uniparental paternal disomy ...

Genomic imprinting and uniparental disomy, however, may affect inheritance patterns. The divisions between recessive and ...

Yip, Moh-Ying (April 2014). "Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing". ...

... is a form of uniparental disomy in which both copies of a chromosome, or parts of it, are inherited from the same ... Some authors use the term uniparental disomy and isodisomy interchangeably. This genetic abnormality can result in the birth of ... "Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations". The American Journal of Human Genetics. 92 ... "Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or ...

There are also cryptic translocations and segmental uniparental disomy (UPD). There are increasing reports of these variations ...

SNRPN-methylation is used to detect uniparental disomy of chromosome 15. After fluorescent-in-situ-hybridization has confirmed ... can reveal whether the patient has uniparental disomy. SNRPN is maternally methylated (silenced). UBE3A appears to be ...

July 1998). "Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue". Prenatal ... Shaffer LG, McCaskill C, Adkins K, Hassold TJ (October 1998). "Systematic search for uniparental disomy in early fetal losses: ... Ledbetter DH, Engel E (1 September 1995). "Uniparental disomy in humans: development of an imprinting map and its implications ... April 1997). "Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy ...

Other, less common mechanisms include uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions.[ ...

Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008 Feb 1;111(3 ... Possible causes for copy-neutral LOH include acquired uniparental disomy (UPD) and gene conversion. In UPD, a person receives ...

If both of the retained chromosomes come from the same parent, then uniparental disomy results. If the retained chromosomes ... 2 February 2016). "Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a ... though uniparental disomy may occur and result in syndromes such as Prader-Willi and Angelman syndromes due to genetic ...

1998). "Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis". The ...

The second frequent genetic abnormality (~ 25-30% of cases) is maternal uniparental disomy of chromosome 15. The mechanism is ... uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. Whether an individual exhibits PWS or AS ...

Uniparental Disomy: UPD occurs when both copies of a gene or genomic region are inherited from the same parent. This is ... Copy neutral LOH (acquired uniparental disomy) has been reported at key loci in ALL, such as CDKN2A gene at 9p, which have ... Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski J (February 2008). "Chromosomal lesions and uniparental disomy ... Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, MacIejewski JP (2008). "Chromosomal lesions and uniparental disomy detected ...

Mutations in this gene were first identified in myeloid neoplasms with deletion or uniparental disomy at 4q24. TET2 may also be ...

... of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child". Journal of Medical Genetics. 38 (12 ...

In 10% of the cases the syndrome is associated with maternal uniparental disomy (UPD) on chromosome 7. This is an imprinting ...

... of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child". Journal of Medical Genetics. 38 (12 ...

Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008 Feb 1;111(3 ...

Robertsonian translocations involving chromosome 14 also carry a slight risk of uniparental disomy 14 due to trisomy rescue. ...

Uniparental disomy denotes the situation where both chromosomes of a chromosome pair are inherited from the same parent and are ... Uniparental disomy of chromosome 15 is, for example, seen in some cases of Prader-Willi syndrome and Angelman syndrome. ... "Smoking cigarettes is associated with increased sperm disomy in teenage men". Fertil. Steril. 70 (4): 715-23. doi:10.1016/S0015 ...

... s, however, have an additional advantage of being able to detect copy-neutral LOH (also called uniparental disomy or ...

This can be due to genetic errors such as the deletion or mutation of a segment of chromosome 15, uniparental disomy, or ... paternal uniparental disomy). As the father's versions are inactivated by a process known as genomic imprinting, no functional ...