Frank Majewski died in December 2001.
Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype
Article first published online: 12 JUN 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 123A, Issue 3, pages 296–300, 15 December 2003
How to Cite
Leube, B., Majewski, F., Gebauer, J. and Royer-Pokora, B. (2003), Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. Am. J. Med. Genet., 123A: 296–300. doi: 10.1002/ajmg.a.20339
- Issue published online: 3 NOV 2003
- Article first published online: 12 JUN 2003
- Manuscript Accepted: 18 APR 2003
- Manuscript Received: 12 AUG 2002
- parental origin;
- tetrasomy/trisomy 12p;
Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-limited mosaicism for a supernumary 12p isochromosome (i12p). Here we report an unusual case with tetrasomy/trisomy/disomy 12p mosaic in fibroblasts and trisomy/disomy 12p mosaic in lymphocytes. The tetrasomy 12p was due to an i12p, the trisomy 12p to a single 12p marker. Both marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridization (FISH). Stability under culturing conditions was studied. DNA-analysis revealed prezygotic maternal origin of the extra 12p material. Clinically, the patient seems to have less retardation than most patients with Pallister-Killian syndrome. © 2003 Wiley-Liss, Inc.