Pentasomy X
Pentasomy X
Definition
Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).
Also known as 49, XXXXX syndrome, 49,XXXXX syndrome, Penta X Syndrome, penta-X, Pentasomy type X, poly-X, XXXXX syndrome — per MONDO