For example, 1q21 deletion (involving RBM8A gene), identified in a 46,XX patient, is a described etiology in Mayer-Rokitansky-Küster-Hauser syndrome, which is present in some patients with this BP2-BP3 deletion [25]. Here, IGFBP2 is linked to Mayer-Rokitansky-Kuster-Hauser syndrome type 1.