Detection of the Pallister-Killian Syndrome by G-Banding and FISH in Cultured Skin Fibroblasts.
- Author:
Jin Yeong HAN
1
;
Tae Gyeom KIM
;
Lisa G SHAFFER
Author Information
1. Department of Clinical Pathology, Dong-A University College of Medicine, Pusan, Korea.
- Publication Type:Original Article
- Keywords:
Pallister-Killian syndrome;
Skin fibroblasts;
FISH
- MeSH:
Chromosome Painting;
Chromosomes, Human, Pair 12;
Cytogenetic Analysis;
Ear;
Epilepsy;
Eyebrows;
Fibroblasts*;
Hair;
Humans;
Hypertelorism;
Intellectual Disability;
Isochromosomes;
Lymphocytes;
Male;
Metaphase;
Mosaicism;
Scalp;
Seizures;
Skin*
- From:Korean Journal of Clinical Pathology
1998;18(2):284-287
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, however, tissue cultures show varying degree of mosaicism for an extra metacentric chromosome i(12)(p10). We report on a two-year-old boy with Pallister-Killian syndrome confirmed by FISH in cultured skin fibroblasts. The patient had myoclonic seizures beginning at 2 months and was delayed in physical and speech development. Craniofacial manifestations include sparsity of scalp hair, hypertelorism, sparse eyebrows, flat nasal bridge, and large ears. Cytogenetic analysis of peripheral lymphocytes done at another hospital was reported to be normal. Studies of his skin fibroblasts showed an extra small metacentric i(12p) chromosome in 100% of metaphases. FISH using of whole chromosome painting probe for chromosome 12 confirmed that the supernumerary chromosome was an isochromosome 12p.
