The Gale encyclopedia of genetic disorders M-Z by Stacey L. Blachford

By Stacey L. Blachford

Quantity 2. M-Z, Appendix, thesaurus, Index.

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B. Saunders Company, 2000. comϾ. Kevin Osbert Hwang, MD 722 Description MKS is inherited in an autosomal recessive pattern, meaning that a child must inherit two altered genes, one from each parent, to be affected. An altered gene responsible for a rare developmental syndrome found predominantly among the Old Order Amish population has been identified. Mutations in the gene responsible for MKS have been identified on chromosome 20p12 in an Amish family. Scientists have isolated the McKusick-Kaufman syndrome gene by positional cloning.

Charles. ” American Family Physician 61, no. 4 (2000): 1037-42. , J. L. Clarke, and S. A. Albert. ” Journal of Clinical Gastroenterology 30, no. (2000): 8788. ORGANIZATIONS A patient with Meckel diverticulum. ) Prognosis The outcome after surgery is usually excellent. The source of bleeding, pain, or obstruction is removed so the symptoms also disappear. A Meckel’s diverticulum will not return. , and Simon T. Taylor-Robinson. Mosby’s Color Atlas & Text of Gastroenterology. St. Louis: MosbyYear Book, 2001.

Seizures at these ages are often associated with future death during a symptomatic episode, recurrent seizures throughout life, the development of cerebral palsy, and/or the development of speech disabilities. Because MCAD deficiency is a recessive disease, both parents must be carriers of this trait in order for their children to be affected. If both parents carry a copy of the mutated gene, there is a 25% likelihood that their child will be homozygous for MCAD deficiency. Genetically, the probability that an affected person will have a sibling who is also affected is also 25%.

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