aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy-Reference-Cited by-同舟云学术

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy

Published:2009-04-07 Issue:5 Volume:149A Page:914-918
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Theisen Aaron,Rosenfeld Jill A.,Farrell Sandra A.,Harris Catharine J.,Wetzel Heather H.,Torchia Beth A.,Bejjani Bassem A.,Ballif Blake C.,Shaffer Lisa G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32767/fullpdf

Reference23 articles.

1. Detection of low-level mosaicism by array CGH in routine diagnostic specimens;Ballif;Am J Med Genet Part A,2006

2. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Mol Cytogenet,2008

3. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?;Bejjani;Am J Med Genet Part A,2005

4. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype;Bielanska;Am J Med Genet,1996

5. Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism;Kayser;Am J Med Genet,2000

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