title: [Deletion of the short arm of chromosome 18 and trisomy 18 in a pair of siblings with unusual form of porphyria].
mesh_terms: D001827:Body Height; D002902:Chromosomes, Human, 16-18; D003582:Cytogenetics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011164:Porphyrias / Q000235:genetics*; D014314:Trisomy
vernacular_title: Deletion des kurzen Armes des Chromosoms Nr. 18 und 18er Trisomie bei einem Geschwisterpaar mit Porphyrie ungewöhnlicher Erscheinungsform.