scholarly journals Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

2007 ◽  
Vol 118 (1) ◽  
pp. 1-7 ◽  
Author(s):  
A.-C. Thuresson ◽  
M.-L. Bondeson ◽  
C. Edeby ◽  
P. Ellis ◽  
C. Langford ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
Whole Genome ◽  
Chromosomal Imbalances ◽  
Genome Array

OC20.06: Whole-genome array CGH in fetuses with major malformations: a Danish study

2012 ◽  
Vol 40 (S1) ◽  
pp. 41-41
Author(s):  
E. Vestergaard ◽  
R. Christensen ◽  
O. B. Petersen ◽  
I. Vogel
Keyword(s):  
Array Cgh ◽  
Whole Genome ◽  
Genome Array ◽  
Danish Study

scholarly journals Cryptic Chromosome Rearrangements in Five Patients, with Normal and/or Abnormal Karyotypes, Associated with Mental Retardation, Autism and/or Epilepsy, Detected by BAC Genome Array-CGH

2012 ◽  
Vol 113 (4) ◽  
pp. 279-288
Author(s):  
V. Cabras ◽  
A. Milia ◽  
C. Montaldo ◽  
Anna Lisa Nucaro
Keyword(s):  
Mental Retardation ◽  
Chromosomal Aberrations ◽  
Reliable Method ◽  
Array Cgh ◽  
Chromosomal Rearrangements ◽  
Phenotype Correlation ◽  
Dysmorphic Features ◽  
Genome Wide ◽  
Genome Array ◽  
Idiopathic Mental Retardation

This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach led us to discover further cryptic chromosomal rearrangements, not previously detected by conventional cytogenetic procedures, and allowed us to better delineate genotype/phenotype correlation. Our experience shows the validity of the BAC platform as a reliable method for genome-wide screening of chromosomal aberrations in patient with idiopathic mental retardation and/or in association with autism and epilepsy.

scholarly journals Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

2011 ◽  
Vol 4 (1) ◽  
pp. 12 ◽  
Author(s):  
Sang-Jin Park ◽  
Eun Jung ◽  
Ran-Suk Ryu ◽  
Hyun Kang ◽  
Jung-Min Ko ◽  
...  
Keyword(s):  
Array Cgh ◽  
Whole Genome ◽  
Clinical Implementation ◽  
Genome Array

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

2006 ◽  
Vol 115 (3-4) ◽  
pp. 254-261 ◽  
Author(s):  
A.C.V. Krepischi-Santos ◽  
A.M. Vianna-Morgante ◽  
F.S. Jehee ◽  
M.R. Passos-Bueno ◽  
J. Knijnenburg ◽  
...  
Keyword(s):  
Array Cgh ◽  
Whole Genome ◽  
Genome Array

scholarly journals Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong

PLoS ONE ◽  
2014 ◽  
Vol 9 (2) ◽  
pp. e87988 ◽  
Author(s):  
Anita S. Y. Kan ◽  
Elizabeth T. Lau ◽  
W. F. Tang ◽  
Sario S. Y. Chan ◽  
Simon C. K. Ding ◽  
...  
Keyword(s):  
Hong Kong ◽  
Array Cgh ◽  
Whole Genome ◽  
Genome Array

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

2011 ◽  
Vol 81 (2) ◽  
pp. 128-141 ◽  
Author(s):  
G D'Amours ◽  
Z Kibar ◽  
G Mathonnet ◽  
R Fetni ◽  
F Tihy ◽  
...  
Keyword(s):  
Copy Number ◽  
Array Cgh ◽  
Normal Karyotype ◽  
Copy Number Variations ◽  
Whole Genome ◽  
Genome Array
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