The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa
| Autor: | T. De Ravel, N Lekgate, W M Pfaffenzeller, B F Manasse |
|---|---|
| Přispěvatelé: | Clinical sciences, Medical Genetics |
| Rok vydání: | 2000 |
| Předmět: |
Pathology
medicine.medical_specialty Abnormalities Multiple/diagnosis Developmental Disabilities Isochromosome Developmental Disabilities/diagnosis Fibroblast cultures Buccal mucosa Pathology and Forensic Medicine Pallister–Killian syndrome Intellectual Disability Medicine Humans Abnormalities Multiple Mouth mucosa Child Genetics (clinical) In Situ Hybridization Fluorescence Chromosomes Human Pair 12 business.industry Mosaicism Intellectual Disability/diagnosis Mouth Mucosa General Medicine Syndrome medicine.disease Pediatrics Perinatology and Child Health Fish Anatomy business |
| Zdroj: | Clinical dysmorphology. 9(3) |
| ISSN: | 0962-8827 |
| Popis: | The Pallister-Killian syndrome is a rare disorder, which is clinically diagnosed and usually confirmed by the detection of mosaicism for an isochromosome 12p in fibroblast cultures. To date FISH on buccal mucosa has been used in only three cases and this detected high levels of mosaicism for the isochromosome. We review one previously reported case [Woodman et al. (1995) Genet Couns 6:33-36] and report a further seven clinically suspected cases in which the diagnoses were confirmed by FISH on buccal mucosa, and recommend that this tissue be used routinely for laboratory confirmation. The presence of the isochromosome 12p at levels as low as 1% is acceptable. |
| Databáze: | OpenAIRE |
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