ABSTRACT
We report one patient with a de novo inversion duplication 18 (pter-->cen) and two cases of direct tandem duplication 18 (pter-->cen), one due to maternal inheritance and the other arising as mosaicism of unknown origin. The duplications are demonstrated by high resolution banding. They were verified by in situ hybridization with a paint specific for chromosome 18 and with DNA probe LI.84 specific for the centromere region of chromosome 18. FISH with the genomic DNA probe pHRR68 specific for 18p11.32 revealed a subtle deletion concomitantly involved in the case of inversion duplication 18p. The patients exhibit slight developmental delay/moderate mental retardation and only a few dysmorphic features. The literature on trisomy 18p is reviewed and the present cases are compared to it.
Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, Pair 18/genetics , Trisomy , Abnormalities, Multiple/genetics , Adult , Child, Preschool , Chromosome Aberrations/pathology , Chromosome Banding , Chromosome Disorders , Chromosome Inversion , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Intellectual Disability/genetics , Karyotyping , Male , SyndromeABSTRACT
An 18-year-old boy with X-linked chronic granulomatous disease (CGD) developed Aspergillus fumigatus pneumonia and multifocal osteomyelitis. Treatment with amphotericin B resulted in only moderate improvement of the lesions and was accompanied by considerable toxicity. In contrast, administration of the new triazole drug itraconazole led to complete disappearance of all signs of infection. We conclude that itraconazole may be a valuable new drug for treating invasive aspergillosis in patients with CGD, although the duration of treatment remains to be established.
