Phenotypic spectrum in uniparental disomy: Low incidence or lack of study.

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dc.contributor.authorBhatt, Arpan D
dc.contributor.authorLiehr, Thomas
dc.contributor.authorBakshi, Sonal R
dc.date.accessioned2015-03-05T05:17:04Z
dc.date.available2015-03-05T05:17:04Z
dc.date.issued2013-07
dc.description.abstractCONTEXT: Alterations in the human chromosomal complement are expressed phenotypically ranging from (i) normal, via (ii) frequent fetal loss in otherwise normal person, to (iii) sub‑clinical to severe mental retardation and dysmorphism in live births. A subtle and microscopically undetectable chromosomal alteration is uniparental disomy (UPD), which is known to be associated with distinct birth defects as per the chromosome involved and parental origin. UPD can be evident due to imprinted genes and/or activation of recessive mutations. AIMS: The present study comprises of data mining of published UPD cases with a focus on associated phenotypes. The goal was to identify non‑random and recurrent associations between UPD and various genetic conditions, which can possibly indicate the presence of new imprinted genes. SETTINGS AND DESIGN: Data mining was carried out using the homepage “https://www.fish.uniklinikum‑jena.de/ UPD.html,” an online catalog of published cases with UPD. MATERIALS AND METHODS: The UPD cases having normal karyotype and with or without clinical findings were selected to analyze the associated phenotypes for each chromosome, maternal or paternal involved in UPD. RESULTS: Our results revealed many genetic conditions (other than the known UPD syndromes) to be associated with UPD. Even in cases of bad obstetric history as well as normal individuals chance detection of UPD has been reported. CONCLUSIONS: The role of UPD in human genetic disorders needs to be studied by involving larger cohorts of individuals with birth defects as well as normal population. The genetic conditions were scrutinized in terms of inheritance patterns; majority of these were autosomal recessive indicating the role of UPD as an underlying mechanism.en_US
dc.identifier.citationBhatt Arpan D, Liehr Thomas, Bakshi Sonal R. Phenotypic spectrum in uniparental disomy: Low incidence or lack of study. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 311-314.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156582
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2013;volume=19;issue=3;spage=311;epage=314;aulast=Bhatten_US
dc.subjectAutosomal recessiveen_US
dc.subjectbirth defectsen_US
dc.subjectdata miningen_US
dc.subjectphenotypic expressionen_US
dc.subjectuniparental disomyen_US
dc.subject.meshCongenital Abnormalities --analysis
dc.subject.meshCongenital Abnormalities --epidemiology
dc.subject.meshCongenital Abnormalities --genetics
dc.subject.meshCongenital Abnormalities --statistics & numerical data
dc.subject.meshData Mining --methods
dc.subject.meshData Mining --utilization
dc.subject.meshPhenotype
dc.subject.meshUniparental Disomy
dc.titlePhenotypic spectrum in uniparental disomy: Low incidence or lack of study.en_US
dc.typeArticleen_US
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