DELETION DES KURZEN ARMES DES CHROMOSOMS NR. 18 UND 18er TRISOMIE BEI EINEM GESCHWISTERPAAR MIT PORPHYRIE UNGEWOHNLICHER ERSCHEINUGSFORM

Translated title of the contribution: Deletion of the short arms of the chromosomes no. 18 and 18 trisomia in siblings with unusual porphyria

N. Simon, J. Hunyadi, A. Szorenyi, G. Szemere

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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 contributionDeletion of the short arms of the chromosomes no. 18 and 18 trisomia in siblings with unusual porphyria
Original languageGerman
Pages (from-to)185-189
Number of pages5
JournalHautarzt
Volume24
Issue number5
Publication statusPublished - Dec 1 1973

ASJC Scopus subject areas

  • Dermatology

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