Journal: Molecular Syndromology

Article Title: A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome

doi: 10.1159/000473693

Figure Lengend Snippet: Chromosomal microarray analysis showing the 69-kb interstitial duplication of chromosome 2q22.3 (chr2:145,218,807–145,287,401 with hg build 19) found in our patient performed by Lineagen, Inc. ZEB2 is partially duplicated in this region.

Article Snippet: Parental CMA assessing only the region of interest on chromosome 2 did not identify any CNVs, indicating that the patient's duplication is de novo. fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window Fig. 2 caption a7 Chromosomal microarray analysis showing the 69-kb interstitial duplication of chromosome 2q22.3 (chr2:145,218,807–145,287,401 with hg build 19) found in our patient performed by Lineagen, Inc. ZEB2 is partially duplicated in this region. fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window Fig. 3 caption a7 Diagram of the putative interstitial duplication within the ZEB2 locus encompassing exons 1 and 2 and intron 1 with part of intron 2 identified in our patient with Mowat-Wilson syndrome identified with high-resolution chromosomal microarray analysis.

Techniques: Microarray

Journal: Molecular Syndromology

Article Title: A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome

doi: 10.1159/000473693

Figure Lengend Snippet: Diagram of the putative interstitial duplication within the ZEB2 locus encompassing exons 1 and 2 and intron 1 with part of intron 2 identified in our patient with Mowat-Wilson syndrome identified with high-resolution chromosomal microarray analysis.

Article Snippet: Parental CMA assessing only the region of interest on chromosome 2 did not identify any CNVs, indicating that the patient's duplication is de novo. fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window Fig. 2 caption a7 Chromosomal microarray analysis showing the 69-kb interstitial duplication of chromosome 2q22.3 (chr2:145,218,807–145,287,401 with hg build 19) found in our patient performed by Lineagen, Inc. ZEB2 is partially duplicated in this region. fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window Fig. 3 caption a7 Diagram of the putative interstitial duplication within the ZEB2 locus encompassing exons 1 and 2 and intron 1 with part of intron 2 identified in our patient with Mowat-Wilson syndrome identified with high-resolution chromosomal microarray analysis.

Techniques: Microarray

Journal: Healthcare

Article Title: Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay

doi: 10.3390/healthcare8030305

Figure Lengend Snippet: Summary of chromosomal microarray results. CNV—copy number variations, bCNV—benign copy number variations, pCNV—pathogenic copy number variations, LB—likely-benign, LP—likely-pathogenic, VOUS—Variant of unknown significance.

Article Snippet: Chromosomal microarray (CMA) is considered a first-tier test for genetic analysis as it can be used to examine gene copy number variations (CNVs) throughout the entire genome, with enhanced sensitivity for detecting submicroscopic deletions and duplications.

Techniques: Microarray, Variant Assay

Journal: Healthcare

Article Title: Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay

doi: 10.3390/healthcare8030305

Figure Lengend Snippet: Clinical features and parameters with chromosomal microarray (CMA) in 35 infants with developmental delay and abnormalities in copy number variations.

Article Snippet: Chromosomal microarray (CMA) is considered a first-tier test for genetic analysis as it can be used to examine gene copy number variations (CNVs) throughout the entire genome, with enhanced sensitivity for detecting submicroscopic deletions and duplications.

Techniques: Microarray

Journal: Healthcare

Article Title: Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay

doi: 10.3390/healthcare8030305

Figure Lengend Snippet: Prevalence of cardiac anomaly, autism spectrum disorder, facial dysmorphism, and brain anomaly in pathogenic and VOUS-likely pathogenic CNV groups versus VOUS with no sub-classification, VOUS-likely benign, benign, and normal CNVs groups. CMA—chromosomal microarray analysis, BW—body weight, ASD—autism spectrum disorder, pCNV—pathogenic copy number variations, LP—likely-pathogenic, VOUS—Variant of unknown significance. * p < 0.05.

Article Snippet: Chromosomal microarray (CMA) is considered a first-tier test for genetic analysis as it can be used to examine gene copy number variations (CNVs) throughout the entire genome, with enhanced sensitivity for detecting submicroscopic deletions and duplications.

Techniques: Microarray, Variant Assay

Journal: Healthcare

Article Title: Relationship between Clinical Parameters and Chromosomal Microarray Data in Infants with Developmental Delay

doi: 10.3390/healthcare8030305

Figure Lengend Snippet: Prevalence of cardiac anomaly, autism spectrum disorder, facial dysmorphism, and brain anomaly in pathogenic, VOUS-likely pathogenic CNV groups, and VOUS with no sub-classification versus VOUS-likely benign, benign, and normal CNVs groups. CMA—chromosomal microarray analysis, BW—body weight, ASD—autism spectrum disorder, pCNV—pathogenic copy number variations, LP—likely-pathogenic, VOUS—Variant of unknown significance, VOUS no classification—VOUS with no-subclassification.

Article Snippet: Chromosomal microarray (CMA) is considered a first-tier test for genetic analysis as it can be used to examine gene copy number variations (CNVs) throughout the entire genome, with enhanced sensitivity for detecting submicroscopic deletions and duplications.

Techniques: Microarray, Variant Assay

Journal: Cytogenetic and genome research

Article Title: Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism

doi: 10.1159/000452815

Figure Lengend Snippet: Microarray analysis of the patient showing a copy number loss at 22q11.22 including the TOP3B gene.

Article Snippet: The FirstStep PLUS chromosomal microarray analysis performed by Lineagen (Salt Lake City, UT) showed a copy number variant of unknown clinical significance described as a 22q11.22 loss (deletion) of base pair coordinates 22,311,348– 22,578,983 (hg build 19; ).

Techniques: Microarray