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: 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