Results: 5

1.
Figure 2

Figure 2. From: Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.

Genetic Markers Used for Genotyping 22q11DS Trios
A UCSC Genome Browser (hg19) image of the 22q11.21–q11.22 genomic region relevant to this study. The image displays representative genes spanning the region for orientation, as well as 15 microsatellite and 28 SNP markers used for our study. The positions of LCRs, or SDs, taken from the SD track and 1.5, 2.0, and 3.0 Mb deletions in 22q11.2 are also illustrated.

Maria Delio, et al. Am J Hum Genet. 2013 March 7; 2013 April 4;92(3):439-447.
2.
Figure 4

Figure 4. From: Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.

Range of Maternal Age at Childbirth
(A) Range of maternal age at childbirth. For each age range, determined from the values shown in Table 2, light gray bars indicate the percentage of mothers who gave birth to a 22q11DS child.
(B) Average maternal age at childbirth per country for 22q11DS offspring and normal population controls. The average maternal age for 22q11DS offspring was derived from the data shown in Table 2. Control data were derived from the United Nations DESA Population Division World Fertility Data, 2008 (Web Resources).

Maria Delio, et al. Am J Hum Genet. 2013 March 7; 2013 April 4;92(3):439-447.
3.
Figure 3

Figure 3. From: Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.

A Maternal Bias Occurs in the Origin of the 22q11.2 Deletion
The bar graph shows the number of 22q11DS individuals with either maternal or paternal origin of the deletion. Light gray data bars represent the amount of maternal, paternal, and combined deletion origin from previous studies (Table S5). Dark gray data bars represent the amount of maternal, paternal, and combined deletion origin from the current study (Table S2). Black data bars represent the total amount of maternal and paternal deletion origin from the combined previous and current data sets. The two-tailed p value is listed below the figure. Significance is based on a p value < 0.05.

Maria Delio, et al. Am J Hum Genet. 2013 March 7; 2013 April 4;92(3):439-447.
4.
Figure 1

Figure 1. From: Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.

Haplotype Analysis for Family 12
Both microsatellite and SNP genotype analysis was performed on DNA from the female proband (BM69), her mother (BM70), and her father (BM71). The vertical lines represent the 22q11.2 region. Informative markers are highlighted in blue. Images of sequences 1 and 2 are from Sanger-sequencing chromatograms of markers rs2871041 and rs178084, respectively. Sequence 1 illustrates noninformative genotypes, whereas sequence 2 confirms informative genotypes. For example, for rs178084, the genotypes indicate that the paternal genotype is T/C and the maternal genotype is C/C. The child displays a T allele, which was inherited through the father, identifying the deletion as being maternal in origin. The following abbreviation is used: NC, no SNP call (failed genotype).

Maria Delio, et al. Am J Hum Genet. 2013 March 7; 2013 April 4;92(3):439-447.
5.
Figure 5

Figure 5. From: Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.

Recombination Rates across the 22q11.2 Region
(A) Position of the LCRs, or SDs, spanning the 22q11.2 region, as well as a snapshot of the representative genes and LCRs, or SDs, from the UCSC Genome Browser (hg19) for the same interval as shown in Figure 5B for the purpose of orientation.
(B) Recombination rates (cM/Mb) across the 22q11.2 region. The recombination rates were taken from UCSC Genome Browser (hg19) tracks (Marshfield, deCODE, and Genethon), which indicate their source of origin. They were derived from the same region shown in Figure 5A. The color coding represents recombination rate: black represents the highest rates, and light gray represents the lowest rates. The female and male averages include data from all three studies. The ratios of the average female-to-male recombination rates (Fem/Male Ratio) are shown across the region.
(C) The genetic distance and recombination rate across the 22q11.2 region (UCSC Genome Browser hg19). Data were obtained from Kong et al., 2010. 22 The female and male genetic distances, as well as the most centromeric and telomeric SNPs, with respect to chromosome 22 are indicated. The female-to-male genetic-distance ratio (Fem/Male) is 2.31 for 22q11.2 and 1.46 for all of chromosome 22.

Maria Delio, et al. Am J Hum Genet. 2013 March 7; 2013 April 4;92(3):439-447.

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