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.

Original languageGerman
Pages (from-to)185-189
Number of pages5
JournalHautarzt
Volume24
Issue number5
Publication statusPublished - 1973

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Porphyrias
Siblings
Chromosomes
Hepatic Porphyria
Skin

ASJC Scopus subject areas

  • Dermatology

Cite this

DELETION DES KURZEN ARMES DES CHROMOSOMS NR. 18 UND 18er TRISOMIE BEI EINEM GESCHWISTERPAAR MIT PORPHYRIE UNGEWOHNLICHER ERSCHEINUGSFORM. / Simon, N.; Hunyadi, J.; Szorenyi, A.; Szemere, G.

In: Hautarzt, Vol. 24, No. 5, 1973, p. 185-189.

Research output: Contribution to journalArticle

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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.",
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