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SYNDROME |
GENETIC ASSOCIATION (S) |
INHERITANCE PATTERN |
|
Alagille |
Jagged-1 (JAG1), 20p12 |
AD |
| Barth |
Tafazzin (TAZ, G4.5),
Xq28 |
X-linked |
|
Cat- Eye |
DGCR, dup 22q11.1, isodicentric chrom 22 |
AD |
| CHARGE (acronym) |
Numerous loci, CHD7 (chromodomain
helicase DNA binding protein 7), 8q12.1
|
Unknown, AD |
|
Down (Tri 21) |
Trisomy 21 (47, +21) |
Sporadic, 5% = unbalanced Robertsonian translocation |
| Duchenne Muscular
Dystrophy |
Dystrophin (DMD),
Xp21.2 |
X-linked rec. |
|
Edwards (Tri 18) |
Trisomy 18 (47, +18) |
Sporadic |
| Ehlers-Danlos
(Multiple types) |
Collagen, numerous
loci Procollagen, 1p36.3 |
AD, AR, X-linked rec. |
|
Ellis-Van Creveld |
EVC
protein (EVC), 4p16 |
AR |
| Fabry disease |
GLA gene, Xq22.1,
alpha-galactosidase A, enzyme deficiency |
X-linked recessive |
| Friedrich's Ataxia |
Frataxin (FRDA), 9q13 |
AR |
|
Goldenhar's syndrome - Hemifacial Microsomia - Oculoauriculo-vertebral
Dysplasia |
Unknown |
Sporadic, occasional AD |
| Heterotaxy (multiple
types) |
Numerous loci |
Kartagener's : AR, Ivemark: occasional AR but most
cases sporadic, Isolated situs: Unknown |
|
Holt-Oram |
T-box transcription factor (TBX5), 12q24.1 |
AD |
| Homocystinuria |
Methylenetetrahydrofolate reductase (MTHFR), 1p36.3 |
AR |
|
Hurler (MPS I) |
Alpha-L-Iduronidase (IDUA), 4p16.3 |
AR |
| Jacobsen |
Deletion 11q25
(BARX2), Deletion 11q23.3 |
AD |
|
Jervell-Lange-Nielsen |
Long QT, numerous loci |
AR |
| Kabuki |
Unknown |
Sporadic |
|
LEOPARD (acronym) |
Protein-tyrosine phosphatase, non-receptor type (PTPN), 12q24.1 |
AD |
| Marfan |
Fibrillin (FBN1),
15q21.1 |
AD |
|
Mitochondrial DNA-Associated Leigh and NARP syndromes |
Numerous mitochondrial loci |
Mitochondrial |
| Myoclonic Epilepsy
Associated with Ragged-Red Fibers (MERRF) |
Mitochondrial tRNA
lysine (MTTK), mitochondrial |
Mitochondrial |
|
Myotonic dystrophy |
Myotonin-protein kinase (DMPK), 19q13.2 Cellular nucleic acid
binding protein (ZNF9), 3q13.3 |
AD |
| Noonan |
Protein-tyrosine
phosphatase, non-receptor type (PTPN), 12q24.1
PTPN11 (tyrosine protein phosphatase non-receptor type 11) 12p24.1
KRAS (GTPase KRas) 12p12.1
SOS1 (son of sevenless homolog 1) 2p22-p21
RAF1 (RAF proto oncogene serine/threonine protein kinase) 3p25
other unidentified genes |
AD |
|
Osteogenesis imperfecta (multiple types) |
numerous loci |
AD, AR |
| Patau (Tri 13) |
Trisomy 13 (47, +13) |
Sporadic |
|
Pompe's disease (Acid Maltase Deficiency) |
Lysosomal Alpha-Glucosidase (GAA), 17q25 |
AR |
| Rubenstein-Taybi |
CREB-binding protein
(CREBBP), 16p13.3 |
AD, Sporadic |
|
Treacher-Collins |
Treacle protein (TCOF1), 5q32 |
AD |
| Tuberous sclerosis |
Hamartin (TSC1), 9q34
Tuberin (TSC2), 16p13.3 |
AR |
|
Turner |
Unisomy X (45, X) |
Sporadic |
| VACTERL (acronym) |
Numerous loci |
Unknown |
|
VCFS (acronym) also called 22q11, DiGeorge, Shprintzen |
DGCR, del 22q11.1, 10p13-p14 |
AD |
| Williams |
Elastin (ELN), 7q11 |
AD |
Last Update 12-31-2007
[Top pf Page] References
1. Burn, John and Judith Goodship. Principles and Practice of Medical
Genetics. 3rd ed. New York, NY: Churchill Livingstone, 1996.
2. Harper, Peter S. Practical Genetic Counseling. 5th ed. Reed Educational
and Professional Publishing, 1998
3. Jones, Kenneth L. Smith’s Recognizable Patterns of Human Malformation.
5th ed. Philadelphia, PA: W.B. Saunders Company, 1997
4. Robinson, Arthur and Mary G. Linden. Clinical Genetics Handbook.
Blackwell Scientific Publication, Inc., 1993
5. Website:
OMIM (Online Mendelian Inheritance in Man)
6. Website: Genetests |
