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Table 1 Reported translocations in patients with MRKH

From: A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3

Author

Case #

Translocation

De novo

Ethnicity

Phenotype

Kucheria et al. [21]

1

46,XX,t(12q;14q)

?

Not stated

MRKH

 

2

46,XX,t(12q;14q)

?

Not stated

MRKH; renal agenesis

Amesse et al. [22]

3

46,XXt(8;13)(q22.1;q32.1) in blood; Mosaic in 4:1 ratio in buttock fibroblasts for minor cell line of 46,XX, t(1;12)(q23.1;q24.3),t(6;6)(q15;p25)

Yes

Not stated

MRKH; congenital amastia/amelia,urinary reflux; urinary incontinence, megarethra

Williams et al.; Current case

4

46,XX, t(3;16)(p22.3;p13.3).

Yes

Caucasian Northern European

MRKH