Skip to main content
Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Figure 4

Details of the 10p14 deletion in case 3. A. Summary of gene quantification and chromosome breakpoint refinement: several genes were tested by MLPA (P023 kit) and DP/LC. Combination of the results indicates a heterozygous deletion of about 230 Kb including the ITIH5 gene. NA: Not Applicable. B. Pedigree of the case 3's family. The proband is indicated with an arrow. Question marks indicate that the phenotype of putative genetic carriers is unknown.

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172