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: Molecular Genetics & Genomic Medicine

Article Title: Interpretation challenge of small copy number variations in the imprinting regions

doi: 10.1002/mgg3.1961

Figure Lengend Snippet: SNP microarray detection of copy number variations using the Affymetrix CytoScan HD platform. (a) Patient 1 showed a 419‐kb gain in chromosome 11. (b) Patient 2 showed a 251‐kb loss in chromosome 15

Article Snippet: The American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) have established standards and recommendations for the interpretation and reporting of constitutional copy number variants (CNVs) detected by the chromosomal microarray (Riggs et al., ).

Techniques: Microarray