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Presinillin 1
Chromosome 14
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Presenillin 2
Chromosome 1
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Huntington's Disease
Trinucleotide Repeat Disorder caused by CAG Expansion > 36 in the HTT gene on chromosome 4p16.3
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Freidreich's Ataxia
Trinucleotide Repeat Disorder caused by a GAA expantion in the FTX gene on Chromosome 9
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Myotonic Dystrophy, type 1
Trinucleotide Repeat Disorder caused by a CTG expansion in the DMPK gene on Chromosome 19
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- Williams Syndrome
- 7q11.23 (FISH)
- Elfin-Facies
- Supravalvular Aortic Stenosis
- Hyperacusis
- Cocktail Personality
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- Prader-Willi Syndrome
- 15q11-13 (FISH)
- Long Face, Thin Lip, Prominent Nose, Almondine Eyes
- Hypotoina
- Obesity
- Short Stature
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- Angelman Syndrome
- 15q11-13 (FISH)
- Wide mouth, prominent jaw
- Seizures
- Inappropriate Laughter
- Ataxic Gait
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DiGeorge Syndrome
- 20q11.2 (FISH)
- Palatal Anaomalies
- Conotrunkal Heart Defects
- Learning Disabilities
- Thymic Hypoplasia
- Hypoparathyroidism
- Immune Dysfunction
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- Smith-Magenis Syndrome
- 17p11.2 (FISH)
- Facies - broad / square face, prominent jaw, flat bridge / midface, downturning mouth with full upper lip, coarse
- Developmental Delay / Autism
- Self-hugging
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Miller-Dieker Syndrome
- 17p13.3 (FISH)
- Type I Lissencephaly
- Seizures
- MR
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- Wolf-Hirschhorn Syndrome
- 4p16.3 (FISH)
- "Greek Helmet" face
- Microcephaly
- Developmental Delay / MR
- Seizures
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- Fragile X Syndrome
- Most common genetic cause of MR
- Mild to Severe MR often with Autistic Phenotype
- Macrocephaly
- Long Faces with prominent jaw
- Large ears and testes
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- Rett Syndrome
- MECP2 or CDLK5
- Normal development until 6-18 months then regression
- Acquired microcephaly
- Loss of purposeful hand movement
- Seizures
- Bruxism
- Atypical Breathing
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