Mild phenotype in a 15-year-old boy with Pallister–Killian syndrome
Article first published online: 30 AUG 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 116A, Issue 1, pages 90–93, 1 January 2003
How to Cite
Genevieve, D., Cormier-Daire, V., Sanlaville, D., Faivre, L., Gosset, P., Allart, L., Picq, M., Munnich, A., Romana, S., de Blois, Mc. and Vekemans, M. (2003), Mild phenotype in a 15-year-old boy with Pallister–Killian syndrome. Am. J. Med. Genet., 116A: 90–93. doi: 10.1002/ajmg.a.10877
- Issue published online: 3 DEC 2002
- Article first published online: 30 AUG 2002
- Manuscript Accepted: 1 JUL 2002
- Manuscript Received: 1 APR 2002
- mild mental retardation;
- 12p tetrasomy;
- Blashko lines
Pallister–Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only. Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal weight, length, and OFC parameters as well as hyperpigmented streaks. The boy attended normal school until the age of 14 years. Because of hyperpigmented stripes, chromosome analysis was performed on skin fibroblasts. This study showed that 37% of the cells had an additional isochromosome for the short arm of chromosome 12. This observation illustrates the phenotypic variability of i(12p) and emphasizes the importance of skin fibroblasts chromosome analysis in patients with pigmentary skin changes. © 2002 Wiley-Liss, Inc.