The Gale Genetic Disorders of encyclopedia vol 1 - part 2 docx
The Gale Genetic Disorders of encyclopedia vol 1 - part 2 docx
... 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 ... Unknown 2. Etiology: UBE3A mutation, Imprinting mutation or Unknown
2
d.71y88y d.83y 78y
61y
36y 23 y
2y
18 y 12 y
54y 49y 46y 39y
d.71y d.88y d.62y 75y
48y60y63...
The Gale Genetic Disorders of encyclopedia vol 1 - part 1 ppsx
... Molecular Genetics and Metabolism
(July 20 00): 16 2- 9 .
ORGANIZATIONS
Acid Maltase Deficiency Association (AMDA). PO Box
70 024 8, San Antonio, TX 7 827 0-0 24 8. ( 21 0 ) 49 4- 614 4 or
( 21 0 ) 49 0- 716 1. Fax: ( 21 0 ) ... 49 0- 716 1. Fax: ( 21 0 ) 49 0- 716 1 or 21 0 -4 9 7-3 810 .
Ͻhttp://www.amda-pompe.orgϾ.
Association for Glycogen Storage Disease (United Kin...
The Gale Genetic Disorders of encyclopedia vol 1 - part 3 ppsx
... 94 010 -1 6 21 . (650) 25 9-3 984. Fax: (650)
25 9-3 983. Ͻhttp://www.ataxiamjd.orgϾ.
International Joseph Disease Foundation, Inc. PO Box 25 50,
Livermore, CA 945 5 1- 25 50. ( 925 ) 4 6 1- 7550. ( 925 ) 3 7 1-
12 88. ... In
studies of families with BBS, researchers have found that
a significant number of cases link either to 11 q13, 15 q 22,
or 16 q 21 . In other famil...
The Gale Genetic Disorders of encyclopedia vol 1 - part 4 pptx
... Institute. 31 Center Dr., Bldg. 31, Room6A 32,
MSC 2 510 , Bethesda, MD 20 89 2- 2 510 . Ͻhttp://www.nei
.nih.govϾ.
National Federation for the Blind. 18 00 Johnson St., Baltimore,
MD 21 2 30. ( 410 ) 65 9-9 314 . epc@roundley.com.
Ͻhttp://www.nfb.orgϾ.
National ... Society. 23 0 W. Monroe St., Suite 18 00,
Chicago, IL 6060 6-4 8 02. ( 3 12 ) 72 6-6 20 0 or (800) 2 2 1-...
The Gale Genetic Disorders of encyclopedia vol 1 - part 5 pps
... 21 st
Street, New York, NY 10 010 . ( 21 2 ) 88 9- 314 1.
Ͻhttp://www.navh.orgϾ.
National Eye Institute. 31 Center Dr., Bldg. 31, Rm 6A 32, MSC
2 510 , Bethesda, MD 20 89 2- 2 510 . (3 01) 49 6-5 24 8.
20 20@nei.nih.gov. Ͻhttp://www.nei.nih.govϾ.
National ... of a child with deletion
22 q 11 syndrome due to a de novo deletion are very
unlikely to have a second child with del...
The Gale Genetic Disorders of encyclopedia vol 1 - part 6 pps
... therapies.
3 52
GALE ENCYCLOPEDIA OF GENETIC DISORDERS
Down syndrome
Down Syndrome
Family Robertsonian Translocation
d.62y
d.40y
2
3
29 y 31y
4y 2y 9y 3y
36y 34y
1y
46, XX, der (14 ; 21 ) (q10;q10), + 21
= 45, ... Institutes of Health. 31 Center
Dr., Bldg. 31, Rm 6A 32, MSC 2 510 , Bethesda, MD
20 89 2- 2 510 . (3 01) 49 6-5 24 8. 20 20@nei.nih.gov.
Ͻhttp://www.nei....
The Gale Genetic Disorders of encyclopedia vol 1 - part 8 pptx
... International. 12 3 Edwards St., Suite 10 03, Toronto,
ONT M5G 1E2. Canada
FACES: The National Craniofacial Association. PO Box 11 0 82,
Chattanooga, TN 374 01. ( 423 ) 26 6 -1 6 32 or (800) 33 2- 2 373.
faces@faces-cranio.org. ... (March 19 99): 16 0-8 .
ORGANIZATIONS
FACES: The National Craniofacial Association. PO Box 11 0 82,
Chattanooga, TN 374 01. ( 423 ) 26 6 -1 6 3...
The Gale Genetic Disorders of encyclopedia vol 1 - part 9 ppt
... per-
formance.” American Journal of Medical Genetics 89
(19 99): 11 6 -1 2 0.
ORGANIZATIONS
National Organization for Rare Disorders (NORD). PO Box
8 923 , New Fairfield, CT 06 8 12 -8 923 . (20 3) 74 6-6 518 ... 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...
The Gale Genetic Disorders of encyclopedia vol 1 - part 10 ppsx
... 984-HOPE. Fax: ( 716 ) 667 -1 2 12.
Ͻhttp://www.huntershope.orgϾ.
United Leukodystrophy Foundation. 23 04 Highland Dr.,
Sycamore, IL 6 017 8. ( 815 ) 89 5-3 21 1 or (800) 72 8-5 483.
Fax: ( 815 ) 89 5 -2 4 32. Ͻhttp://www. ... pigment
epithelium-specific protein
RPE65 1p 31
LCA3 Unknown Unknown 14 q24
LCA4 Arlhydrocarbon-interacting
protein-like 1
AIPL1 17 p13 .1
LCA5 Unknown...
The Gale Genetic Disorders of encyclopedia vol 2 - part 1 pps
... MI 483 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 6 12 -7 (set)
0-7 87 6-5 613 -5 (Vol. 1)
0-7 87 6-5 614 -3 (Vol. 2)
Printed in the United ... Cheshire,
CW 1-6 UR. UK 12 7 025 02 21 . Fax: 087 0-7 70 0-3 27 .
Ͻhttp://www.climb.org.ukϾ.
International Society for Mannosidosis an...