The Gale Genetic Disorders of encyclopedia vol 1 - part 10 ppsx

... pigment epithelium-specific protein RPE65 1p 31 LCA3 Unknown Unknown 14 q24 LCA4 Arlhydrocarbon-interacting protein-like 1 AIPL1 17 p13 .1 LCA5 Unknown Unknown 6q 11 q16 LCA due to Cone-rod homeobox CRX ... that LCA2 causes only 10 % of the known cases of LCA, and the treatment in this experimental study does not work for other types of LCA. GALE ENCYCLOPEDIA OF GENET...

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... chromosome 10 in an area designated as 10 q26. Demographics As of 20 01, less than 10 cases of Beare-Stevenson cutis gyrata syndrome have been reported. Both males 14 4 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Beare-Stevenson ... 11 q13” means chromosome number 11 , long arm, region 1, band 3. In studies of families with BBS, researchers have found that a significant nu...

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... Molecular Genetics and Metabolism (July 2000): 16 2-9 . ORGANIZATIONS Acid Maltase Deficiency Association (AMDA). PO Box 700248, San Antonio, TX 7827 0-0 248. ( 210 ) 49 4- 614 4 or ( 210 ) 49 0- 716 1. Fax: ( 210 ) ... or ( 210 ) 49 0- 716 1. Fax: ( 210 ) 49 0- 716 1 or 210 -4 9 7-3 810 . Ͻhttp://www.amda-pompe.orgϾ. Association for Glycogen Storage Disease (Unit...

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... specific region of the chro- mosome 15 inherited from the mother. This region is designated 15 q 1 1- 13 (bands 11 through 13 on the long arm of chromosome 15 ). The fact that AS occurs only when there are ... family his- tory of the condition, approximately 2/3 of the time the affected person inherited the gene alteration from his or her mother. The other 1/...

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... in the palate, which is the roof of the mouth. The size and position of the opening varies. The cleft may only be in the hard palate, the bony portion of the roof of the mouth opening into the ... floor of the nose, or it may only occur in the soft palate, the soft portion of the roof of the mouth. The cleft palate may involve both the hard an...

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... 21st Street, New York, NY 10 010 . ( 212 ) 88 9- 314 1. Ͻhttp://www.navh.orgϾ. National Eye Institute. 31 Center Dr., Bldg. 31, Rm 6A32, MSC 2 510 , Bethesda, MD 2089 2-2 510 . (3 01) 49 6-5 248. 2020@nei.nih.gov. ... 19 98): 4 4 1- 448. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 285 Crane-Heise syndrome Lurie, I. “Genetics of the Costello Syndrome.” American Journal...

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... + 21 = 45, XX, t (14 ; 21) (q10; q10), 14 ,+ 21 46, XX, der (14 ; 21) (q10;q10), + 21 Heart disease Heart attack Down syndrome 2 (Gale Group) After birth, a diagnosis is made by a physician per- forming a ... therapies. 352 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Down syndrome Down Syndrome Family Robertsonian Translocation d.62y d.40y 2 3 29y 31y 4y 2y 9y 3y 36y 34y 1y 46, XX,...

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... Science (November 7, 19 97): 10 50 -1 0 54. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 4 81 Genetic testing sparse or absent hair, thin skin, and short stature. X rays of the bones of the body may be helpful ... Genetic Testing for Late-Onset Disorders in Adults: A Position Paper of the National Society of Genetic Counselors.” Journal of the American Medic...

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... (dilation of the colon). The disease can affect varying lengths of bowel segment, most often involving the region around the rectum. In up to 10 % of children, however, the entire colon and part of the ... As of 200l, there are a total of six genes: the RET gene, the glial cell line-derived neu- rotrophic factor gene, the endothelin-B receptor gene, endotheli...

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... from our mother and one chromosome 9 from our father, we also GALE ENCYCLOPEDIA OF GENETIC DISORDERS 11 09 T otherwise), the genetic background of the fetus, and the dose and duration of the teratogen. ... (19 69): 411 -4 39. ORGANIZATIONS T.A.R.S.A. Thrombocytopenia Abset Radius Syndrome Association. 212 Sherwood Drive, Linwood, NJ 0832 4- 7658. (609) 92 7-0...

Ngày tải lên: 10/08/2014, 15:20