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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

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

Figure 1

MLPA analysis of cases 1 to 4. Gene dosage in cases 1 to 4 assessed by the MLPA P023 kit. Histogramms represent allelic dosage of each target gene. Black arrows show deletion of (A) FLJ10474 (ODZ3), CASP3 and KLKB1 probes at 4q34-qter in case 1; (B) MSRA probe at 8p23 in case 2; (C) MGC10848 (ITIH5) probe at 10p14 in case 3; (D) HIRA, CLDN5, KIAA1652 (TXNRD2), FLJ14360 (KLHL22), PCQAP, SNAP29, LZTR1 probes at 22q11.2 in case 4.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172