X-linked recessive genetic defects - how girls are affected
There are several X-linked (or sex-linked) recessive genetic disorders, (hemophilia, muscular dystrophy) which are inherited through a genetic defect on an X chromosome. A female has 2 X chromosomes, one she inherited from her mother and one she got from her father. A male has an X chromosome from his mother and a Y chromosome from his father. Females may get the defective gene either from her mother's defective X, or, if her father has the disorder, from her father. In either case, the girl will be a carrier and will probably pass the defect to her offspring. She will not manifest the disorder the way a boy would, because she has 2 X chromosomes, and the dominant X will compensate for the defect on the recessive X. Only if a female has 2 parents with the defect on their X chromosomes will she get a milder form of the disorder.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; and Benjamin Seckler, MD, Diagnostic Radiologist, Poughkeepsie, NY, and President of Charley's Fund; and Luc Jasmin, MD, PhD, Department of Neurosurgery at Cedars-Sinai Medical Center, Los Angeles, and Department of Anatomy at UCSF, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
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