Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter.

Simple item page
dc.contributor.authorChopade, D K
dc.contributor.authorHarde, Harish
dc.contributor.authorUgale, Pallavi
dc.contributor.authorChopade1, Sandesh
dc.date.accessioned2015-03-09T06:36:08Z
dc.date.available2015-03-09T06:36:08Z
dc.date.issued2014-01
dc.description.abstractRearrangements between homologous chromosomes are extremely rare and manifest mainly as monosomic or trisomic offsprings. There are remarkably few reports of balanced homologous chromosomal translocation t (22q; 22q) and only two cases of transmission of this balanced homohologous rearrangement from mother to normal daughter are reported. Robersonian translocation carriers in non‑homologous chromosomes have the ability to have an unaffected child. However, it is not possible to have an unaffected child in cases with Robersonian translocations in homologous chromosomes. Carriers of homologous chromosome 22 translocations with maternal uniparental disomy do not have any impact on their phenotype. We are presenting a family with a history of multiple first trimester miscarriages and an unexpected inheritance of balanced homologous translocation of chromosome 22 with paternal uniparental disomy. There are no data available regarding the impact of paternal UPD 22 on the phenotype. We claim this to be the first report explaining that paternal UPD 22 does not impact the phenotype.en_US
dc.identifier.citationChopade D K, Harde Harish, Ugale Pallavi, Chopade Sandesh. Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter. Indian Journal of Human Genetics. 2014 Jan-Mar ;20 (1): 85-88.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156641
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2014;volume=20;issue=1;spage=85;epage=88;aulast=Chopadeen_US
dc.subjectBalanced homologous chromosomal translocationen_US
dc.subjectinheritanceen_US
dc.subjectuniparental disomyen_US
dc.subject.meshAdult
dc.subject.meshChild
dc.subject.meshChromosomes, Human, 21-22 and Y --genetics
dc.subject.meshChromosomes, Human, Pair 22 --genetics
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshInheritance Patterns --genetics
dc.subject.meshMale
dc.subject.meshPhenotype --genetics
dc.subject.meshTranslocation, Genetic --genetics
dc.subject.meshUniparental Disomy --genetics
dc.titleUnexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter.en_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
ijhg2014v20n1p85.pdf
Size:
971.56 KB
Format:
Adobe Portable Document Format
Description:
Case report
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Indian Journal of Human Genetics