✦ LIBER ✦

Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype

✍ Scribed by Bielanska, Magdalena M.; Khalifa, Mohamed M.; Duncan, Alessandra M.V.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 513 KB
Volume: 65
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961016)65:2<104::aid-ajmg4>3.0.co;2-s

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✦ Synopsis

Pallister-Killian syndrome (PKS) is a rare disorder characterized by a specific combination of anomalies, mental retardation and mosaic presence of a supernumerary isochromosome 12p which is tissue-limited. We report an atypical case of PKS with a mild phenotype. Fluorescence in situ hybridization (FISH) was used to demonstrate that the supernumerary marker chromosome identified in the patient's fibroblasts was an isochromosome 12p. This study broadens the spectrum of PKS phenotype. It also illustrates the usefulness of fluorescence in situ hybridization in diagnosis of patients with chromosomal abnormalities and mild or atypical clinical findings.

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