INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-2 - A DOSE STUDY ON ISOCITRATE DEHYDROGENASE-1
INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-2 - A DOSE STUDY ON ISOCITRATE DEHYDROGENASE-1
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DOI：
10.1007/bf01897787
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发表时间：
1988-12-01
期刊：
影响因子：
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通讯作者：
OGASAWARA, N
中科院分区：
文献类型：
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作者：
SUMI, S;OBAYASHI, M;OGASAWARA, N
报告一个10个月大的女婴，表现为生长发育障碍、智力和运动发育迟缓、短颈、上睑下垂、低耳、短颈和小颌畸形。染色体分析显示2q32.3- 2 q33间质缺失，来源于父亲的ins（5;2）。由于患者红细胞中的异柠檬酸脱氢酶I活性降低至0.310 nmol/min/mg Hb，因此建议IDH 1的基因位于2q32.3和2 q33之间的片段上。
A 10-month-old girl with growth impairment, delayed mental and motor develoment, short neck, ptosis, low set ears, brevicollis and micrognathia was reported. Chromosome analysis showed interstitial deletion involving a segment of 2q32.3-2q33, which was derived from ins(5;2) of her father. Since the isocitrate dehydrogenase I activity in the erythrocyte of the patient was reduced at 0.310 nmol/min/mg Hb, it is suggested that the gene for IDH 1 is located on the segment between 2q32.3 and 2q33.