In 1998, researchers Laura Mazzanti and Emanuele Cacciari published “Congenital Heart Disease in Patients with Turner’s Syndrome,” hereafter “Congenital Heart Disease,” in The Journal of Pediatrics. Turner syndrome is a genetic disorder caused by a missing X chromosome and affects one in 1,500 to 2,500 female births. Turner syndrome can result in various developmental issues, such as stunted physical and sexual growth, infertility, and congenital heart disease, or developmental malformations of the heart. At the time of publication, other researchers had established a link between congenital heart defects and Turner syndrome. However, there was little research on the relationship between what specific chromosomal pattern a person had and the types of congenital heart defects that a person presented with. “Congenital Heart Disease” established links between certain types of chromosomal patterns with various congenital heart defects, which the authors argue should allow for improved medical intervention and a better quality of life for people with Turner syndrome.

X-linked severe combined immunodeficiency, or X-SCID, is a chromosomal disorder in which the immune system lacks multiple protective cells that defend the body from disease. As of 2024, approximately one in 75,000 males have X-SCID. X-SCID is the most common type of SCID, which encompasses a range of disorders that all involve defects in immune cells that fight infections, leaving the individual susceptible to life-threatening diseases. X-SCID, which typically only affects males, arises due to a mutation in the interleukin 2 receptor gamma chain, or IL-2RG, gene on the X chromosome. IL-2RG aids certain immune cells to develop their protective functions, so a mutation in the receptor results in a dysfunctional immune system. Doctors most commonly use bone marrow transplants to treat X-SCID. By studying cases of X-SCID, researchers more clearly defined the role of lymphocytes in immune system development and overall disease protection. Unless detected and treated early, the defect in immune cells from X-SCID makes the individual prone to severe, recurrent infections, which are almost always fatal.