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TY - JOUR AU - Sumi, Satoshi AU - Obayashi, Mikihisa AU - Murakami, Mayumi AU - Ito, Jin AU - Okada, Noboru AU - Sano, Tadashi AU - Oishi, Hidetsune AU - Ogasawara, Nobuaki PY - 1988 DA - 1988/12/01 TI - Interstitial deletion of the long ARM of chromosome 2: A dose study on isocitrate dehydrogenase 1 JO - Japanese journal of human genetics SP - 461 EP - 467 VL - 33 IS - 4 AB - A 10-month-old girl with growth impairment, delayed mental and motor development, 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 1 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. SN - 1435-232X UR - https://doi.org/10.1007/BF01897787 DO - 10.1007/BF01897787 ID - Sumi1988 ER -