The Gale Genetic Disorders of encyclopedia vol 2 - part 2 doc

... 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 1/3 of the time, the alteration of the androgen ... (spondylitis)—Inflammatory dis- ease of the joints of the spine. Urethritis—Inflammation of the urethra. Uveitis—Inflammation of all or part of the...

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... text. GRAPHICS The Gale Encyclopedia of Genetic Disorders con- tains over 20 0 full color illustrations, including photos GALE ENCYCLOPEDIA OF GENETIC DISORDERS ix INTRODUCTION toms of acromegaly ... are the major findings in the mid -part of the face. The mouth is wide and the chin small. As the face elongates in adult life, the prominence of the...

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... Syndrome.” American Journal of Medical Genetics 76 (1998): 3 6 2- 64. ORGANIZATIONS Children’s Craniofacial Association. PO Box 28 029 7, Dallas, TX 7 524 3-4 522 . (9 72) 99 4-9 9 02 or (800) 53 5-3 643. contactcca@ccakids.com. ... VA 22 193. (703) 4 9 2- 025 3. Ͻhttp://www.nevus.orgϾ. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 167 Brachydactyly KEY TERMS Anemia—A blood co...

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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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... Information Service. PO Box 20 345, Houston, TX 7 722 5-0 345. (800) 29 2 -2 2 21. Ͻhttp://www.tmc.edu/thi/his.htmlϾ. Melissa Knopper GALE ENCYCLOPEDIA OF GENETIC DISORDERS 26 9 Congenital heart disease cause ... New York, NY 10010. (21 2) 88 9-3 141. Ͻhttp://www.navh.orgϾ. National Eye Institute. 31 Center Dr., Bldg. 31, Rm 6A 32, MSC 25 10, Bethesda, MD 20 8 9 2- 2510....

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... 25 10, Bethesda, MD 20 8 9 2- 2510. (301) 49 6- 524 8. 20 20@nei.nih.gov. Ͻhttp://www.nei.nih.gov/Ͼ. Schepens Eye Research Institute. 20 Staniford St., Boston, MA 021 14 -2 5 00. (617) 9 1 2- 0100. Ͻhttp://www.eri.harvard .eduϾ. WEBSITES Cooper, ... #404, Washington, DC 20 008 -2 3 04. (800) 336-GENE (Help- line) or (20 2) 96 6-5 557. Fax: (888) 39 4-3 937. info @geneticallia...

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... 6A 32, MSC 25 10, Bethesda, MD 20 8 9 2- 2510. Ͻhttp://www.nei .nih.govϾ. National Organization for Rare Disorders (NORD). PO Box 8 923 , New Fairfield, CT 068 1 2- 8 923 . (20 3) 74 6-6 518 or (800) 99 9-6 673. ... 622 5 8-0 114. (618) 566 -2 0 20. Fax: (618) 56 6-4 718. Ͻhttp://www.nfed.orgϾ. National Organization for Rare Disorders (NORD). PO Box 8 923 , New Fairfield, CT...

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... As of 20 0l, there are a total of six genes: the RET gene, the glial cell line-derived neu- rotrophic factor gene, the endothelin-B receptor gene, endothelin converting enzyme, the endothelin-3 ... (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, t...

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... dominant form of LGMD has a 50% chance of passing the condition on to his or her GALE ENCYCLOPEDIA OF GENETIC DISORDERS 669 Limb-girdle muscular dystrophy Genetic causes of the limb-girdle muscular ... necessary remove the diagnosis of LFS. Genetic testing may not identify a 666 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Li-Fraumeni syndrome KEY TERMS Chemoth...

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... MI 4833 1-3 535 All rights reserved including the right of reproduction in whole or in part in any form. ISBN 0-7 87 6-5 6 1 2- 7 (set) 0-7 87 6-5 61 3-5 (Vol. 1) 0-7 87 6-5 61 4-3 (Vol. 2) Printed in the United ... because of the risk of GALE ENCYCLOPEDIA OF GENETIC DISORDERS 711 Marfan syndrome The GALE ENCYCLOPEDIA of Genetic Disord...

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