Interstitial deletion of long arm of chromosome 2(q31q33) - PubMed (original) (raw)

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Interstitial deletion of long arm of chromosome 2(q31q33)

Y Hiroyama et al. Acta Paediatr Jpn. 1990 Oct.

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) (q31q33]. 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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Interstitial deletion of long arm of chromosome 2(q31q33) - PubMed (original) (raw)