MAMLD1 and primary ovarian failure: In case P4, CMA analysis revealed one gain and two losses on different chromosomes, in addition to a 1.3 Mb gain at 2q32.1q32.2 that involved five OMIM genes [GULP1(608165), DIRC1(606423), COL3A1(120180), COL5A2(120190), and SLC40A11 (604653)] and an additional 125 Mb loss at Xp22.12-qter that involved four OMIM genes (MECP2, GRIA3, AFF2, and MAMLD1), which are associated with abnormal embryo development, mental delay, premature ovarian failure and gender dysplasia, as well as embryonic death or spontaneous abortion.