Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome:Buccal smear analysisshould remain the diagnostic procedure of first choice-Reference-Cited by-同舟云学术

Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome:Buccal smear analysisshould remain the diagnostic procedure of first choice

Published:2013-04-23 Issue:6 Volume:161 Page:1517-1519
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cobben J.M.,Engelen M.¹,Polstra A.²

Affiliation:

1. Department of Pediatric Neurology; AMC University Hospital; Amsterdam; The Netherlands

2. Department of Clinical Genetics; AMC University Hospital; Amsterdam; The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35866/fullpdf

Reference7 articles.

1. Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: A skin biopsy should remain the diagnostic gold standard;Hodge;Am J Med Genet Part A,2012

2. Clinical and radiological findings in Pallister-Killian syndrome;Jamuar;Eur J Med Genet,2012

3. The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa;Manasse;Clin Dysmorphol,2000

4. New diagnostic method for Pallister-Killian syndrome: Detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization;Ohashi;Am J Med Genet Prar A,1993

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