Concepedia

Abstract

A 22‐year‐old female presented with stunted physical growth, moderate mental retardation, urinary malformation, renal insufficiency, hypercorticalism and abnormal neurological findings. Physical stigmata including hypertelorism, bilateral simian creases and abnormal dermatoglyphics were also observed. Cytogenetically, a translocation involving chromosomes No. 2 and 7 with deletion of the long arm of the latter was detected. A discrepancy in the inheritance of Kidd (Jk) blood group system provisionally suggests the localization of the relevant locus on the long arm of chromosome No. 7.

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