Review Article

Mayer-Rokitansky-Kuster-Hauser Syndrome: Embryology, Genetics and Clinical and Surgical Treatment

Table 1

Genes involved in MRKH syndrome, from “GeneCards: the human gene compendium” [52].

GeneChromosomeCytogenetic bandBeginningEndSizeOrientation

WT11111p1332,409,321 bp from pter 32,457,176 bp from pter 47,856 basesNegative filament
WNT411p36.23–p35.122,443,798 bp from pter 22,470,462 bp from pter 26,665 basesNegative filament
PAX21010q24102,505,468 bp from pter 102,589,698 bp from pter 84,231 basesPositive filament
HOXA777p15.227,193,335 bp from pter 27,196,296 bp from pter 2,962 basesNegative filament
HOXA1377p15.227,235,022 bp from pter 27,239,725 bp from pter 4,704 basesNegative filament
LHX11717q1235,294,499 bp from pter 35,301,912 bp from pter 7,414 basesPositive filament
HNF1B1717cen–q21.336,046,434 bp from pter 36,105,237 bp from pter 58,804 basesNegative filament
KLHL4XXq21.386,772,715 bp from pter 86,925,050 bp from pter 152,336 basesPositive filament
SHOXXXp22.33; Yp11.3585,079 bp from pter 620,146 bp from pter 35,068 basesPositive filament