Table 1.

Genomic Testing Used in Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

Duplication 1ISCA ID 2Region Location 3, 4MethodSensitivity
ProbandAt-risk family members
0.5-Mb duplication at Xq28 (hemizygous in males; heterozygous in females)PendingGRCh37/hg19 chrX:154124111-154564398CMA 5100% 6100% 6
Targeted duplication analysis 7NA 7100% 6
1.

See Molecular Genetics for details of the duplication.

2.

Standardized clinical annotation and interpretation for genomic variants from the Clinical Genome Resource (ClinGen) project (formerly the International Standards for Cytogenomic Arrays [ISCA] Consortium)

3.

Genomic coordinates represent the minimum duplication size associated with the int22h1/int22h2-mediated Xq28 duplication as designated by ClinGen. Duplication coordinates may vary slightly based on array design used by the testing laboratory. Note that the size of the duplication as calculated from these genomic positions may differ from the expected duplication size due to the presence of segmental duplications near breakpoints.

4.

See Molecular Genetics for genes of interest included in this region.

5.

Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including int22h1/int22h2). CMA designs in current clinical use target the Xq28 region. The ability to determine the size of the duplication depends on the type of microarray used and the density of probes in the Xq28 region. Note: The int22h1/int22h2-mediated Xq28 duplication may not have been detectable by older oligonucleotide or BAC platforms.

6.
7.

Not applicable. Targeted duplication analysis methods can include quantitative PCR (qPCR), multiplex ligation-dependent probe amplification (MLPA), and iFISH as well as other targeted quantitative methods. Targeted duplication analysis is not appropriate for an individual in whom the int22h1/int22h2-mediated Xq28 duplication was not detected by CMA designed to target this region.

From: Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

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