The Gale Genetic Disorders of encyclopedia vol 1 - part 4 pptx

... 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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... 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 ... names such as Norman- Landing disease, Gangliosidosis-GM1 beta-galactosidase -1 deficiency, Hurler-variant, pseudo-Hurler disease, Tay- GALE ENCYCLOPEDIA...

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... Genetics and Metabolism (July 2000): 16 2-9 . ORGANIZATIONS Acid Maltase Deficiency Association (AMDA). PO Box 700 248 , San Antonio, TX 7827 0-0 248 . ( 210 ) 49 4- 6 14 4 or ( 210 ) 49 0- 716 1. Fax: ( 210 ) 49 0- 716 1 ... 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 Diseas...

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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 ... New York, NY 10 038. (800) 46 5 -4 837 or (888) 44 3-7 222. Ͻhttp://www.liverfoundation.orgϾ. American Lung Association. 17 40 Broadway, New York, NY 10 019...

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... 94 010 -1 6 21. (650) 25 9-3 9 84. Fax: (650) 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. ... 11 q13” means chromosome number 11 , long arm, region 1, band 3. In studies of families with BBS, researchers have found that a significant number of cases link...

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... 19 98): 4 4 1- 44 8. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 285 Crane-Heise syndrome Lurie, I. “Genetics of the Costello Syndrome.” American Journal of Medical Genetics (September 19 94) : 35 8-3 59. Van ... 21st Street, New York, NY 10 010 . ( 212 ) 88 9- 3 14 1. Ͻhttp://www.navh.orgϾ. National Eye Institute. 31 Center Dr., Bldg. 31, Rm 6A32, MSC 2 510 , Bethesd...

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... therapies. 352 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Down syndrome Down Syndrome Family Robertsonian Translocation d.62y d .40 y 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...

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... the exstrophy-epispadias complex.” Journal of Urology (19 84) 13 2(2): 308 -1 0 . ORGANIZATIONS Association for the Bladder Exstrophy Community. PO Box 14 72, Wake Forest, NC 27588 -1 4 72. ( 919 ) 62 4- 9 44 7. Ͻhttp://www.bladderexstrophy.com/support.htmϾ. Hypospadias ... Albinism (Hermansky-Pudlak Syndrome).” New England Journal of Medicine 338 (19 98): 12 58 -1 2 64. G...

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... 11 545 . (800) 4 5 1- 643 4. Fax: ( 516 ) 6 7 1- 40 55. Ͻhttp://www. hgf1@hgfound.orgϾ. International Center for Skeletal Dysplasia. Saint Joseph’s Hospital, 7620 York Rd., Towson, MD 212 04. ( 41 0 ) 33 7- 12 50. Little ... pigment epithelium-specific protein RPE65 1p 31 LCA3 Unknown Unknown 14 q 24 LCA4 Arlhydrocarbon-interacting protein-like 1 AIPL1 17 p13 .1 LCA5 Unknown...

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... Hills, MI 48 3 3 1- 3535 All rights reserved including the right of reproduction in whole or in part in any form. ISBN 0-7 87 6-5 612 -7 (set) 0-7 87 6-5 613 -5 (Vol. 1) 0-7 87 6-5 6 14 -3 (Vol. 2) Printed in the United ... avoid pregnancy because of the risk of GALE ENCYCLOPEDIA OF GENETIC DISORDERS 711 Marfan syndrome The GALE ENCYCLO...

Ngày tải lên: 10/08/2014, 15:20