|
1
|
Functional disomy of the Xq28 chromosome region.
|
Eur J Hum Genet
|
2005
|
1.15
|
|
2
|
An excess of chromosome 1 breakpoints in male infertility.
|
Eur J Hum Genet
|
2004
|
1.06
|
|
3
|
Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20.
|
Am J Med Genet A
|
2005
|
1.00
|
|
4
|
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
|
Eur J Hum Genet
|
2009
|
0.94
|
|
5
|
De novo trisomy 20p of paternal origin.
|
Am J Med Genet A
|
2007
|
0.90
|
|
6
|
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
|
Eur J Hum Genet
|
2002
|
0.89
|
|
7
|
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
|
Eur J Hum Genet
|
2005
|
0.88
|
|
8
|
Molecular karyotyping in human constitutional cytogenetics.
|
Eur J Med Genet
|
2005
|
0.88
|
|
9
|
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
|
Eur J Hum Genet
|
2009
|
0.86
|
|
10
|
Distal Xq duplication and functional Xq disomy.
|
Orphanet J Rare Dis
|
2009
|
0.86
|
|
11
|
An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.
|
Am J Med Genet A
|
2011
|
0.82
|
|
12
|
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
|
Prenat Diagn
|
2004
|
0.79
|
|
13
|
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
|
Am J Med Genet A
|
2014
|
0.79
|
|
14
|
17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
|
Cytogenet Genome Res
|
2014
|
0.79
|
|
15
|
[Problems posed by genetic diseases: trisomy 21].
|
Rev Prat
|
2006
|
0.75
|
|
16
|
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
|
Cytogenet Genome Res
|
2016
|
0.75
|
|
17
|
Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.
|
Cytogenet Genome Res
|
2017
|
0.75
|