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

Indian Journal of Human Genetics
Arpan D BhattSonal R Bakshi

Abstract

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. 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. Data mining was carried out using the homepage "http://www.fish.uniklinikum-jena.de/UPD.html.", an online catalog of published cases with UPD. 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. Our results revealed many genetic conditions (other than the known UPD syndromes) to be associated with UPD. ...Continue Reading

References

Jan 1, 1980·American Journal of Medical Genetics·E Engel
Jun 16, 2005·American Journal of Medical Genetics. Part a·Dieter Kotzot, Gerd Utermann
Mar 31, 2010·Molecular Cytogenetics·Thomas Liehr
Nov 3, 2010·Clinical Genetics·A J DawsonUNKNOWN Canadian College of Medical Geneticists committees

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Citations

Apr 8, 2014·European Journal of Medical Genetics·Olga ZilinaKatrin Ounap
Sep 8, 2018·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Fulesh KunwarSonal Bakshi

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Methods Mentioned

BETA
chromosomal aberrations

Software Mentioned

Online

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