Detection of the Pallister-Killian Syndrome by G-Banding and FISH in Cultured Skin Fibroblasts / 대한임상병리학회지
Korean Journal of Clinical Pathology
;
: 284-287, 1998.
Artigo
em Coreano
| WPRIM
| ID: wpr-202971
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Couro Cabeludo
/
Convulsões
/
Pele
/
Cromossomos Humanos Par 12
/
Linfócitos
/
Isocromossomos
/
Coloração Cromossômica
/
Análise Citogenética
/
Orelha
/
Epilepsia
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Clinical Pathology
Ano de publicação:
1998
Tipo de documento:
Artigo
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