The Gale Genetic Disorders of encyclopedia vol 1 - part 6 pps

... therapies. 352 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Down syndrome Down Syndrome Family Robertsonian Translocation d .62 y d.40y 2 3 29y 31y 4y 2y 9y 3y 36y 34y 1y 46, XX, der (14 ; 21) (q10;q10), + 21 = 45, ... + 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 diagnos...

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... 94 010 -1 6 21. (65 0) 25 9-3 984. Fax: (65 0) 25 9-3 983. Ͻhttp://www.ataxiamjd.orgϾ. International Joseph Disease Foundation, Inc. PO Box 2550, Livermore, CA 945 5 1- 2550. (925) 4 6 1- 7550. (925) 3 7 1- 12 88. ... Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06 812 -8 923. (203) 74 6- 6 518 or (800) 99 9 -6 67 3. Fax: (203) 74 6- 6 4 81. Ͻhtt...

Ngày tải lên: 10/08/2014, 15:20

... (202) 96 6- 8 553. Ͻhttp://www.geneticalliance.orgϾ. Cornelia de Lange Syndrome Foundation, Inc. 302 West Main St., Suite 10 0, Avon, CT 060 01. ( 860 ) 67 6- 8 16 6 (800) 22 3-8 355. Fax: ( 860 ) 67 6- 8 337. March ... 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,...

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... 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 q 16 LCA due to Cone-rod homeobox CRX ... 11 545. (800) 4 5 1- 64 34. Fax: ( 5 16 ) 6 7 1- 4055. Ͻhttp://www. hgf1@hgfound.orgϾ. International Center for Skeletal Dysplasia. Saint Joseph’s Hospital, 762 0 York Rd., T...

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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- 61 4 4 or ( 210 ) 49 0- 7 16 1. Fax: ( 210 ) ... 49 0- 7 16 1. Fax: ( 210 ) 49 0- 7 16 1 or 210 -4 9 7-3 810 . Ͻhttp://www.amda-pompe.orgϾ. Association for Glycogen Storage Disease (United Kingdom)....

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... 15 86, Longview, Texas 7 560 6 -1 5 86. (903)23 6- 7 079. National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06 812 -8 923. ((203) 74 6- 6 518 or (800) 99 9 -6 67 3. Fax: (203) 74 6- 6 4 81. ... 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...

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... 10 60 5. (888) 66 3-4 63 7. resource- center@modimes.org. Ͻhttp://www.modimes.orgϾ. National Easter Seal Society. 230 W. Monroe St., Suite 18 00, Chicago, IL 60 60 6- 4 802. ( 312 ) 72 6- 6 200 or (800) 2 2 1- 68 27. ... Chester, PA 19 013 . ( 61 0 ) 49 9-9 264 or (800) 60 6-CMTA. Fax: ( 61 0 ) 49 9-9 267 . cmtassoc@aol.com. Ͻwww.charcot-marie-tooth.orgϾ. CMT International....

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... 62 25 8- 011 4. ( 61 8 ) 56 6- 2 020. Fax: ( 61 8 ) 56 6- 4 718 . Ͻhttp://www.nfed.orgϾ. National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06 812 -8 923. (203) 74 6- 6 518 or (800) 99 9 -6 67 3. Fax: ... (March 19 99): 16 0-8 . ORGANIZATIONS FACES: The National Craniofacial Association. PO Box 11 082, Chattanooga, TN 374 01. (423) 266 -1...

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... per- formance.” American Journal of Medical Genetics 89 (19 99): 11 6 -1 2 0. ORGANIZATIONS National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06 812 -8 923. (203) 74 6- 6 518 ... (NORD). PO Box 8923, New Fairfield, CT 06 812 -8 923. (203) 74 6- 6 518 or (800) 99 9 -6 67 3. Fax: (203) 74 6- 6 4 81 Ͻhttp://www .rarediseases.orgϾ. WEBSITES “En...

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... malformations and/or dys- functions of the ears (-oto-), palate (-palato-), fingers and toes (-digito-), skull (-cranio-), mouth (-oro-), face (- facio-), and bones (-osseo-). Some of the characteristics common ... of Limb Disorder Children. 84 01 Powers Rd., Batavia, NY 14 020. ( 7 16 ) 76 2-9 997. EA/TEF Child and Family Support Connection, Inc. 11 1 West Jackson Blvd.,...

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