The Gale Genetic Disorders of encyclopedia vol 2 - part 3 pps

... Box 110 82, Chattanooga, TN 37 401. ( 4 23 ) 26 6-1 6 32 or (800) 3 3 2- 23 73. faces@faces-cranio.org. Ͻhttp://www.faces-cranio .org/Ͼ. National Organization for Rare Disorders (NORD). PO Box 8 9 23 , New ... malformations and/or dys- functions of the ears (-oto-), palate (-palato-), fingers and toes (-digito-), skull (-cranio-), mouth (-oro-), face (- facio-), and bones...

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... MI 4 833 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 ... (NORD). PO Box 8 9 23 , New Fairfield, CT 068 1 2- 8 9 23 . (20 3) 74 6-6 518 or (800) 99 9-6 6 73. Fax: (20 3) 74 6-6 481. Ͻhttp://www ....

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... Foundation. 33 3 East 38 th St., Room 830 , New York, NY 10016 -2 7 45. (21 2) 29 7-4 33 6. cfg@nyh .med.cornell.edu. Cooley’s Anemia Foundation, Inc. 129 -0 9 26 th Ave. #20 3, Flushing, NY 1 135 4. (800) 522 - 722 2 or ... Defici- ency.” Nature Genetics 22 , no. 4 (August 1999): 33 6 -3 45. Oram, John. “Tangier Disease and ABCA1.” Biochimica et Biophysica Acta 1 529 (20...

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... 1:40–41, 41 Choroidal coloboma, 1 :25 5 25 6 Choroideremia, 1 :22 9 23 1 Chromosomal abnormalities, 1 : 23 2 23 8 , 23 3, 23 6 23 7 aneuploidy, 1 : 23 3 23 5 cell division, 1 : 23 2 23 3 deletions, 1 : 23 6 23 7, 3 12 31 5 human chromosome ... McKusick-Kaufmann syndrome, 2: 722 – 724 Charcot-Marie-Tooth disease, 1 :21 9 22 2 Charge Syndrome Foundation, 1 :22 6 CHARGE syndrome,...

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... 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 6 43. contactcca@ccakids.com. ... Ͻhttp://www.ccakids.comϾ. FACES. The National Craniofacial Assocation. PO Box 110 82, Chattanooga, TN 37 401. ( 4 23 ) 26 6-1 6 32 or (800) 3 3 2...

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... Journal of Medical Genetics 43, no. 3 (June 19 92) : 6 0 2- 605. ORGANIZATIONS Genetic Alliance. 430 1 Connecticut Ave. NW, #404, Washing- ton, DC 20 008 -2 3 04. (800) 33 6-GENE (Helpline) or (20 2) GALE ENCYCLOPEDIA ... location of the hMLH1 gene is on chromosome 3 at 3p21 .3, while the location of hMSH2 is chromosome 2, 2p 2 2- p21. Genetic testing for hMLH1 an...

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... 31 7 East 34 th Street, Room 901, New York, NY 10016. (21 2) 68 4-5 860, (800) 39 3- 32 2 3. MUMS. National Parent to Parent Organization. 150 Custer Court, Green Bay, WI 5 430 1- 124 3. ( 920 )33 6-5 33 3. Ͻhttp://www.netnet.net/mumsϾ. WEBSITES “Entry ... GA 30 32 9 . (404) 63 3- 3 777. Ͻhttp:// www.rheumatology.orgϾ. National Organization for Rare Disorders (NORD). PO B...

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... National Craniofacial Association. PO Box 110 82, Chattanooga, TN 37 401. ( 4 23 ) 26 6-1 6 32 or (800) 3 3 2- 23 73. faces@faces-cranio.org. Ͻhttp://www.faces-cranio .org/Ͼ. National Association of the Deaf. ... Diagnosed Key: dx.42y dx .32 y dx .28 y dx .25 y dx .28 y An Example of Type 2B 2 Died young of unknown cause CHF (congestive heart failure) +Epididymal cystad...

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... enlarged spleen 122 6 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Zellweger syndrome GALE ENCYCLOPEDIA OF GENETIC DISORDERS 1 23 9 Chromosome Map 12 13 11 11 1 p q 21 25 26 13 14 15 12 22 23 24 1 2 Chromosome ... 96 63 Bethesda, MD 20 8 9 2- 96 63 Phone: (30 1) 44 3- 4 5 13 Fax: (30 1) 44 3- 427 9 Website: http://www.nimh.nih.gov/ publicat/index.cfm G...

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... problems. Limb-lengthening can increase overall height by 1 2- 14 in (30 . 5 -3 5.6 cm). It does not change the other physical manifestations of achondropla- sia such as the appearance of the hands and ... decide for them- 20 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Achondroplasia Achondroplasia Autosomal Dominant 3 2 d.48y 86y 56y 52y 49y 55y 54y 2 2 Ovarian cancer...

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