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Interstitial Deletion of Long Arm of Chromosome 2(q3 lq33)
Author(s) -
Hiroyama Yoshifumi,
Hatanaka Hiroyuki,
Ikenoue Tsuyomu,
Ishihara Yoshimori
Publication year - 1990
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1990.tb00882.x
Subject(s) - medicine , long arm , chromosome , genetics , gene , biology
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 (IDH 1 ) is located on 2q33.3. The activity of serum IDH 1 was in the normal range in this patient.