Kumar Jeevan M, Gowrishankar Kalpana, Vasanthi T, Kumar R Ashok, Jayasudha T
Department of Medical Genetics, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India.
Indian J Hum Genet. 2011 Sep;17(3):241-3. doi: 10.4103/0971-6866.92089.
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.
等臂染色体是一种结构不平衡的染色体，由两条短臂或两条长臂组成，其产生是由于异常的着丝粒分裂或姐妹染色单体交换。大多数常染色体等臂染色体并不常见，而涉及性染色体的等臂染色体则较为常见。歌舞伎综合征（KS，OMIM 147920）是一种病因不明的多发畸形/智力发育迟缓综合征。对一名4岁女童进行常规细胞遗传学研究，该女童具有提示KS的身体特征，结果发现其淋巴细胞存在X染色体长臂等臂染色体的嵌合体现象。虽然该患者出现的大多数表现此前已有描述，但本报告是该综合征临床和细胞遗传学发现的罕见关联。全基因组分析以及对更多患者群体的研究可能会增进我们对KS遗传基础的理解。
