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

TitleIsochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association.
Publication TypeJournal Article
Year of Publication2011
AuthorsKumar JM, Gowrishankar K, Vasanthi T, Kumar AR, Jayasudha T
JournalIndian J Hum Genet
Volume17
Issue3
Pagination241-3
Date Published2011 Sep
ISSN0971-6866
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.
DOI10.4103/0971-6866.92089
Alternate JournalIndian J Hum Genet
Citation Key1107
PubMed ID22346002