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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 17, No. 3, 2011, pp. 241-243
Bioline Code: hg11051
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 17, No. 3, 2011, pp. 241-243

 en Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association
Kumar, Jeevan M.; Gowrishankar, Kalpana; Vasanthi, T; Kumar, R Ashok. & Jayasudha, T


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.

Cytogenetic, isochromosome X, Kabuki syndrome, mental retardation, mosaicism, multiple malformation

© Copyright 2011 Indian Journal of Human Genetics.
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