The Gale Genetic Disorders of encyclopedia vol 1 - part 4 pptx
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...
The Gale Genetic Disorders of encyclopedia vol 1 - part 8 pptx
... 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...
The Gale Genetic Disorders of encyclopedia vol 1 - part 1 ppsx
... 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...
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 ... 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...
The Gale Genetic Disorders of encyclopedia vol 1 - part 3 ppsx
... 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...
The Gale Genetic Disorders of encyclopedia vol 1 - part 5 pps
... 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...
The Gale Genetic Disorders of encyclopedia vol 1 - part 6 pps
... 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...
The Gale Genetic Disorders of encyclopedia vol 1 - part 9 ppt
... 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...
The Gale Genetic Disorders of encyclopedia vol 1 - part 10 ppsx
... 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...
The Gale Genetic Disorders of encyclopedia vol 2 - part 1 pps
... 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...
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