Chromosomal studies were done in a brother and sister previously reported by Simon et al. where hepatic porphyria was associated with unusual skin lesions since childhood. The brother's chromosome set was: 46,XY/46,XY,18p- and the sister's set was: 46,XX/47,XX,E+. The chromosomal changes were in mosaic form in both patients.
|Translated title of the contribution||Deletion of the short arms of the chromosomes no. 18 and 18 trisomia in siblings with unusual porphyria|
|Number of pages||5|
|Publication status||Published - Dec 1 1973|
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