Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association.

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dc.contributor.authorKumar, Jeevan M
dc.contributor.authorGowrishankar, Kalpana
dc.contributor.authorVasanthi, T
dc.contributor.authorKumar, R Ashok
dc.contributor.authorJayasudha, T
dc.date.accessioned2012-06-12T05:23:17Z
dc.date.available2012-06-12T05:23:17Z
dc.date.issued2011-09
dc.description.abstractIsochromosome is a structurally unbalanced chromosome consisting of two short arms or two long arms, which are derived by abnormal centromere division or sister-chromatid exchange. Most autosomal isochromosomes are unusual, while those involving sex chromosomes are common. Kabuki syndrome (KS, OMIM 147920) is a multiple malformation/mental retardation syndrome of unknown etiology. A conventional cytogenetic study on lymphocytes from a 4-year-old girl with physical features suggestive of KS was found to have mosaicism for isochromosome for the long arm of the X. Although most manifestations present in this patient have been described before, this report is a rare association of clinical and cytogenetic findings in this syndrome. A genome-wide analysis and a larger number of patient groups studied could improve our understanding of the genetic basis of KS.en_US
dc.identifier.citationKumar Jeevan M, Gowrishankar Kalpana, Vasanthi T, Kumar R Ashok, Jayasudha T. Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association. Indian Journal of Human Genetics. 2011 Sept; 17(3): 241-243.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/138972
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276999/en_US
dc.subjectCytogeneticen_US
dc.subjectisochromosome Xen_US
dc.subjectKabuki syndromeen_US
dc.subjectmental retardationen_US
dc.subjectmosaicismen_US
dc.subjectmultiple malformationen_US
dc.subject.meshAbnormalities, Multiple --genetics
dc.subject.meshChild, Preschool
dc.subject.meshCytogenetics
dc.subject.meshFace --abnormalities
dc.subject.meshHematologic Diseases --genetics
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshSex Chromosomes --genetics
dc.subject.meshVestibular Diseases --genetics
dc.subject.meshX Chromosome --abnormalities
dc.subject.meshX Chromosome --genetics
dc.titleIsochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association.en_US
dc.typeArticleen_US
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