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J Med Genet 41:916-922 doi:10.1136/jmg.2004.022855
  • Original article

Molecular karyotyping using an SNP array for genomewide genotyping

Table 2

 Overview of peaks revealed with the GeneChip Mapping 10K SNP array

Chromosomal location P2 P4* P5 P12 P16 P17
Peaks were defined as a minimum of three contiguous SNPs with a CPA p value of at least ±8. *Hybridisation with generally low signal intensity showing only one site with four contiguous SNPs with a CPA p value of ⩽−5. Peak values correctly identified as significant peaks: †deletion, ‡duplication; §reproducible peak considered not disease related, because it was mainly produced by a very low copy number of a single SNP within a region without known genes; ¶false positive peaks, not confirmed by either repeat hybridisation, quantitative PCR or FISH. N, normal; het, peak not considered because two SNPs within the peak region were heterozygous (peak also not reproducible). Number of SNPs showing respective CPA p value are shown in parentheses.
2 (77.4–79.5 M) N N N 20 (10x)¶ N N
4 (0–2.1 M) N N N −10.3 (3x)† N N
4 (79.8–80.4 M) N N N N −20 (9x)† N
4 (118.8–119.3 M) N N 20 (4x)¶ N N N
5 (145.7–146.0 M) N N −10.4 (5x)§ N N N
5 (178.4-TER) N −5.2 (4x)† N N N N
9 (35.5–38.3 M) N N N N N −8.8 (5x) het
10 (131.1–132.6 M) N N −20 (12x)† N N N
11 (17.9–18.1 M) N N N −8.7 (4x)¶ N N
22 (16.6–19.7 M) −8.6 (6x)† N N N N N
22 (43.9–46.4 M) N N 20 (12x)‡ N N N
X (PTER-7.5 M) Male (−20) N N N Male (−20) −11.7 (9x)†

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