Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: A skin biopsy should remain the diagnostic gold standard
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference13 articles.
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1. PALLISTER–KILLIAN SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30
2. Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature;Molecular Genetics & Genomic Medicine;2019-08-27
3. Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization;Taiwanese Journal of Obstetrics and Gynecology;2019-01
4. Postnatal diagnostics of the pallister-killian syndrome using interphase nuclear of buccal mucosa by fluorscence in situ hybridization method;Acta Medica Leopoliensia;2019
5. Prenatal diagnosis of Pallister-Killian syndrome in one twin;Clinical Case Reports;2018-06-13
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