The Gale Genetic Disorders of encyclopedia vol 2 - part 10 pps

... McKusick-Kaufmann syndrome, 2: 722 – 724 Charcot-Marie-Tooth disease, 1 :21 9 22 2 Charge Syndrome Foundation, 1 :22 6 CHARGE syndrome, 1 :22 2 22 5, 1 :25 6 25 7 Chediak-Higashi syndrome, 1 :22 6 22 7 albinism ... syndrome, 2: 1 022 Seckel syndrome, 2: 103 9 severe combined immunodeficiency, 2: 10 42 104 3 Sjögren-Larsson syndrome, 2: 106 1 10 62 Smith-Lemli-Opitz syndrome, 2:...

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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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... 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 ... an omphalocele depends upon the size of the defect, whether there was a loss of blood flow to part of the intestines or other organs, 8 32 GALE ENCYCLO...

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... 830, New York, NY 100 16 -2 7 45. (21 2) 29 7-4 336. cfg@nyh .med.cornell.edu. Cooley’s Anemia Foundation, Inc. 129 -0 9 26 th Ave. #20 3, Flushing, NY 11354. (800) 522 - 722 2 or (718) 321 -2 8 73. Ͻhttp://www.thalassemia.orgϾ. March ... from our mother and one chromosome 9 from our father, we also GALE ENCYCLOPEDIA OF GENETIC DISORDERS 1109 T otherwise), the gene...

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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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... 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 and hMSH2 is available but the detection rate for mis- match ... Journal of Medical Genetics 43, no. 3 (June 19 92) : 6 0 2- 605. ORGANIZATIONS Genetic Alliance. 4301 Connecticut Ave. NW, #404, Washing- ton, DC 20 008 -2 3 04. (800)...

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... Joseph’s Hospital, 7 620 York Rd., Towson, MD 21 204. ( 410) 33 7- 125 0. National Eye Institute. 31 Center Drive, Bldg. 31, Room6A 32, MSC 25 10, Bethseda, MD 20 8 9 2- 2 510. (301) 49 6- 524 8. 20 20@nei.nih.gov. ... Journal of Medical Genetics 66 (1996): 22 7 -2 3 4. Neri, Giovanni, et al. “Clinical and Molecular Aspects of the Simpson-Golabi-Behmel Syndrome.” American...

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... to the shape of his/her head, width of the face at the level of the eyes, and appearance of the chin and forehead. Besides measurement of the head circumference, arm GALE ENCYCLOPEDIA OF GENETIC ... Diagnosed Key: dx.42y dx.32y 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 cystaden...

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... enlarged spleen 122 6 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Zellweger syndrome GALE ENCYCLOPEDIA OF GENETIC DISORDERS 123 9 Chromosome Map 12 13 11 11 1 p q 21 25 26 13 14 15 12 22 23 24 1 2 Chromosome ... Association (AMDA) PO Box 70 024 8 San Antonio, TX 7 827 0- 024 8 Phone: (21 0) 49 4-6 144 or (21 0) 49 0- 7161 Fax: (21 0) 49 0-7 161 or (21 0)...

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... Molecular Genetics and Metabolism (July 20 00): 1 6 2- 9. ORGANIZATIONS Acid Maltase Deficiency Association (AMDA). PO Box 70 024 8, San Antonio, TX 7 827 0- 024 8. (21 0) 49 4-6 144 or (21 0) 49 0-7 161. Fax: (21 0) ... text. GRAPHICS The Gale Encyclopedia of Genetic Disorders con- tains over 20 0 full color illustrations, including photos GALE ENCYCLOPEDIA OF G...

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