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Results: 4

1.
Figure 3

Figure 3. From: 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome.

Facial Appearance of Patients with 22q11.2 Distal Deletions
Shared facial dysmorphic features include arched eyebrows, flattened midface, smooth philtrum, and thin upper lip. (A) Patient 1, whose ∼2.1 Mb deletion extends from LCR22-4 through LCR22-6. Note the arched eyebrows and the smooth philtrum. This patient also has sex-chromosome aneuploidy with 47,XYY karyotype.
(B and C) Patient 2, with ∼2.1 Mb deletion. Note the low-set, cuboidal ears, hypoplastic browridges, broad nasal bridge, smooth philtrum, and pointed chin.
(D) Patient 5, whose ∼1.4 Mb deletion extends from LCR 22-4 through LCR22-5. Note the pointed chin in addition to partial ptosis.
(E and F) Patient 6, with ∼1.4 Mb deletion. Note the arched eyebrows, hypoplastic browridges, smooth philtrum, and flat retracted midface.

Shay Ben-Shachar, et al. Am J Hum Genet. 2008 January 10;82(1):214-221.
2.
Figure 4

Figure 4. From: 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome.

Analysis of 22q11.2-Distal-Deletion Breakpoints by High-Resolution Oligonucleotide Microarray Analysis
Results of Agilent 244K array-based oligonucleotide CGH performed on DNA samples from patients 1, 2, and 5 and 6 revealed similar proximal breakpoints in all of the cases. Red arrows represent the known LCR22s in the region. Black horizontal lines represent the different breakpoints, and the numbers represent genomic distance of the different breakpoints (Megabase units) from 22p telomere according to NCBI human genome build 36 (2006). Note that the proximal breakpoint is common in all of the cases, and the distal breakpoints also coincide for patients 1 and 2 and patients 5 and 6, respectively. The breakpoints are located in the known LCR22s, implying NAHR-based recombination mechanism.

Shay Ben-Shachar, et al. Am J Hum Genet. 2008 January 10;82(1):214-221.
3.
Figure 1

Figure 1. From: 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome.

Schematic Overview of the 22q11.2 Region
Numbers below the schematic represent distance (million base units) from the 22p telomere according to NCBI human genome build 36 (2006). LCRs are depicted as gray boxes and labeled according to their number. LCR22-7 and LCR22-8 are located telomeric to the scheme and are not shown. The BAC clones that are included in the array-based CGH are depicted as horizontal black lines. Boxes below the map depict the typical deletions in DGS/VCFS and the different distal deletions reported in patients by this study and in previous reports (ref.). Note that exact deletion borders are sometimes only estimated in previously reported cases as well as in patient 3.

Shay Ben-Shachar, et al. Am J Hum Genet. 2008 January 10;82(1):214-221.
4.
Figure 2

Figure 2. From: 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome.

Array-CGH and FISH Findings among Patients and Their Parents
(A) Representative array-CGH output. The mean normalized log2(Cy3/Cy5) ratio of each BAC is plotted on the x axis as dots with error bars and arranged along the vertical axis from chromosome 1 at the top to chromosomes X and Y at the bottom. Decreased copy number was identified for two BAC clones, RP11-36N5 and 296H20 (marked by a red ellipse to the left of the vertical axis), which map between LCR22-4 and LCR22-5 on chromosome 22q11.2, just distal to the telomeric end of the common DGS/VCFS ∼3 Mb deletion.
(B) Representative FISH analysis of deletion case. The two red fluorescence signals represent hybridization using a subtelomeric chromosome 22q FISH probe, and the single green signal represents the hybridization of the RP11-36N5 clone to the normal (nondeleted) chromosome 22. Deletions were confirmed by FISH analyses in all the cases.
(C and D) Representative FISH analyses of normal parents. Metaphase FISH analysis using the same probes detected two normal copies of the distal 22q11.2 probe among the parents.

Shay Ben-Shachar, et al. Am J Hum Genet. 2008 January 10;82(1):214-221.

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