Summary
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.
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Sumi, S., Obayashi, M., Murakami, M. et al. Interstitial deletion of the long ARM of chromosome 2: A dose study on isocitrate dehydrogenase 1. Jap J Human Genet 33, 461–467 (1988). https://doi.org/10.1007/BF01897787
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DOI: https://doi.org/10.1007/BF01897787
