The Gale Genetic Disorders of encyclopedia vol 1 - part 3 ppsx
The Gale Genetic Disorders of encyclopedia vol 1 - part 3 ppsx
... 11 q 13 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 either to 11 q 13, 15 q22,
or 16 q 21. ... Ͻhttp://www.ccakids.comϾ.
FACES. The National Craniofacial Assocation. PO Box 11 082,
Chattanooga, TN 37 4 01. (4 23) 266 -1 6 32 or (800) 33 2-
237 3. faces@faces-cranio....
The Gale Genetic Disorders of encyclopedia vol 1 - part 10 ppsx
... pigment
epithelium-specific protein
RPE65 1p 31
LCA3 Unknown Unknown 14 q24
LCA4 Arlhydrocarbon-interacting
protein-like 1
AIPL1 17 p 13 .1
LCA5 Unknown Unknown 6q 11 q16
LCA due to Cone-rod homeobox
CRX ... 984-HOPE. Fax: ( 716 ) 667 -1 2 12.
Ͻhttp://www.huntershope.orgϾ.
United Leukodystrophy Foundation. 230 4 Highland Dr.,
Sycamore, IL 6 017 8. ( 815 ) 89 5 -3 211 or (800) 72 8-...
The Gale Genetic Disorders of encyclopedia vol 1 - part 1 ppsx
... 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 Disease (United Kingdom).
0 13 1 554 27 91. Fax: 0 13 1 244 8926. Ͻhttp://www.agsd
.org.ukϾ.
WEBSITES
Neuromuscular ... an acardiac twin.” New England
Journal of Medicine 33 9 (19 98): 12 9 3- 9 5.
ORGANIZATIONS
Twin Hope, Inc. 2592 West 14 th...
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 ... 15 86, Longview,
Texas 75606 -1 5 86. (9 03) 23 6-7 079.
National Organization for Rare Disorders (NORD). PO Box
89 23, New Fairfield, CT 06 812 -8 9 23. ((...
The Gale Genetic Disorders of encyclopedia vol 1 - part 4 pptx
... Institute. 31 Center Dr., Bldg. 31 , Room6A32,
MSC 2 510 , Bethesda, MD 2089 2-2 510 . Ͻhttp://www.nei
.nih.govϾ.
National Federation for the Blind. 18 00 Johnson St., Baltimore,
MD 212 30 . ( 410 ) 65 9-9 31 4 . ... inherits one set of copies
of gene BRCA1, located on chromosome 13 , from the
mother and another set of BRCA1 from the father,
located on the other allelic...
The Gale Genetic Disorders of encyclopedia vol 1 - part 5 pps
... 21st
Street, New York, NY 10 010 . ( 212 ) 88 9- 31 4 1.
Ͻhttp://www.navh.orgϾ.
National Eye Institute. 31 Center Dr., Bldg. 31 , Rm 6A32, MSC
2 510 , Bethesda, MD 2089 2-2 510 . (3 01) 49 6-5 248.
2020@nei.nih.gov. ... 19 98): 4 4 1- 448.
GALE ENCYCLOPEDIA OF GENETIC DISORDERS
285
Crane-Heise syndrome
Lurie, I. “Genetics of the Costello Syndrome.” American
Journal...
The Gale Genetic Disorders of encyclopedia vol 1 - part 6 pps
... therapies.
35 2
GALE ENCYCLOPEDIA OF GENETIC DISORDERS
Down syndrome
Down Syndrome
Family Robertsonian Translocation
d.62y
d.40y
2
3
29y 31 y
4y 2y 9y 3y
36 y 34 y
1y
46, XX, der (14 ; 21) (q10;q10), + 21
= ... Ͻhttp://med-aapos.bu.edu/Ͼ.
Genetic Alliance. 43 01 Connecticut Ave. NW, #404,
Washington, DC 2000 8-2 30 4. (800) 33 6-GENE (Help-
line) or (202) 96 6-5 557...
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 11 082,
Chattanooga, TN 37 4 01. (4 23) 266 -1 6 32 or (800) 33 2-2 37 3.
faces@faces-cranio.org. ... (March 19 99): 16 0-8 .
ORGANIZATIONS
FACES: The National Craniofacial Association. PO Box 11 082,
Chattanooga, TN 37 4 01. (4 23) 266 -1 6 3...
The Gale Genetic Disorders of encyclopedia vol 1 - part 9 ppt
... Hermansky-Pudlak Syndrome Due to
Mutations in the Beta-3A Subunit of the AP -3 Adaptor.”
Molec. Cell 3 (19 99): 11 - 21.
Depinho, R.A., and K.L. Kaplan. The Hermansky-Pudlak
Syndrome, Report of Three ... 2000 8-2 30 4. (800) 33 6-GENE (Helpline)
or (202) 96 6-5 557. Fax: (888) 39 4 -3 937 info@genetical-
liance. Ͻhttp://www.geneticalliance.orgϾ.
National MPS Society....
The Gale Genetic Disorders of encyclopedia vol 2 - part 3 pps
... 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 ... PO Box 11 082,
Chattanooga, TN 37 4 01. (4 23) 266 -1 6 32 or (800) 33 2-
237 3. faces@faces-cranio.org. Ͻhttp://www.faces-cranio
.org/Ͼ.
National Organization f...