Abstract
IN our human gene localization studies we have sought abnormal inheritance patterns of qualitative gene markers and have evaluated possible gene dose effects through quantitative enzyme assays in patients with abnormal chromosome constitutions. During these studies a patient with the cat cry syndrome was found to have a half normal value for red blood cell triosephosphate isomerase (EC 5.3.1.1). Clinical features which suggest that the patient has the cat cry syndrome include mental and physical retardation, a weak plaintive cry, moon facies, mild microcephaly, epicanthal folds, antimongoloid slant to the palpebral fissures and hypertelorism1.
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SPARKES, R., CARREL, R. & PAGLIA, D. Probable Localization of a Triosephosphate Isomerase Gene to the Short Arm of the Number 5 Human Chromosome. Nature 224, 367–368 (1969). https://doi.org/10.1038/224367a0
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DOI: https://doi.org/10.1038/224367a0
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