Interstitial Deletion of Long Arm of Chromosome 2(q3 lq33) |
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| Authors: | Yoshifumi Hiroyama MD Hiroyuki Hatanaka MD Tsuyomu Ikenoue MD Yoshimori Ishihara MD |
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| Institution: | Departments of Pediatrics;Neuropsychiatry, National Minamikyushu Hospital, Kagoshima;Perinatal Medical Center, Kagoshima Municipal Hospital, Kagoshima;Genetic Research Laboratories, SRL, Tokyo |
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| Abstract: | We describe the case of a 4-month-old girl with interstitial deletion of the long arm of chromosome 2(46,XX,del(2) (q31 q33)). Clinical features included intrauterine growth retardation, psychomotor delay, antimongoloid slanting of the palpebral fissures, hypertelorism, low set ears, cleft palate, micrognathia, luxatio coxae and pes varus. It is suggested that the gene for soluble isocitrate dehydrogenase (IDH1) is located on 2q33.3. The activity of serum IDH1 was in the normal range in this patient. |
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| Keywords: | Chromosome 2 Chromosomal deletion Psychomotor delay Multiple anomalies Isocitrate dehydrogenase 1 |
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