| CASE REPORT |
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| Year : 2011 | Volume
: 17
| Issue : 3 | Page : 241-243 |
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Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association
Jeevan M Kumar1, Kalpana Gowrishankar1, T Vasanthi1, R Ashok Kumar2, T Jayasudha1
1 Department of Medical Genetics, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India
2 School of Bio Sciences and Technology, VIT University, Vellore, India
Correspondence Address:
Jeevan M Kumar
Department of Medical Genetics, Kanchi Kamakoti CHILDS Trust Hospital, Chennai - 34
India
 Source of Support: None, Conflict of Interest: None  | 22 |
DOI: 10.4103/0971-6866.92089
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Isochromosome 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. |
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