Prenatal diagnosis of chromosomal mosaicism in over 1600 cases using array comparative genomic hybridization as a first line test-Reference-Cited by-同舟云学术

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Prenatal diagnosis of chromosomal mosaicism in over 1600 cases using array comparative genomic hybridization as a first line test

Published:2014-02-17 Issue:5 Volume:34 Page:478-486
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Carey Louise¹,Scott Fergus²³,Murphy Kristi²,Mansfield Nerida¹,Barahona Paulette¹,Leigh Don¹,Robertson Rob²,McLennan Andrew²⁴

Affiliation:

1. Genea; Sydney New South Wales Australia

2. Sydney Ultrasound for Women; Sydney New South Wales Australia

3. Faculty of Medicine; University of New South Wales; Sydney New South Wales Australia

4. Faculty of Medicine; University of Sydney; Sydney New South Wales Australia

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.4332/fullpdf

Reference42 articles.

1. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities;Kaminsky;Genet Med,2011

2. Genomics, intellectual disability, and autism;Mefford;N Engl J Med,2012

3. The use of microarray-based molecular cytogenetic methods for the identification of chromosome abnormalities in the pediatric population;Shaffer;Pediatr Ann,2009

4. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am J Hum Genet,2010

5. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities;Manning;Genet Med,2010

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1. Prenatal detection of copy number variants;Best Practice & Research Clinical Obstetrics & Gynaecology;2024-12

2. The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling—A Narrative Review;Journal of Personalized Medicine;2024-07-21

3. Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report;European Journal of Human Genetics;2024-07-16

4. A retrospective study for diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications;2024-01-10

5. Chromosome instability and aneuploidy in the mammalian brain;Chromosome Research;2023-11-01

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