Term
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Definition
Phenotype:Thick sticky mucus, delayed growth, men infertile, salty-skin, & pancreatic problems.
Genotype:chromosome 7, 3 base pair deletion (CFTR gene- protein)
Inheritance:autosomal recessive |
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Term
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Definition
Phenotype:slow blood clotting
Genotype:F8/F9 gene - coagulation factor 8 or 9
Inheritance:X-linked recessive or mutation |
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Term
| Down Syndrome (trisomy 21) |
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Definition
Phenotype:mental retardation, heart problems, recurring ear infections
Genotype:3 copies of chromosome 21
Inheritance: nondysjunction |
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Term
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Definition
Phenotype: stocky, only in women, infertile
Genotype:only receives one x chromosome
Inheritance: nondysjunction |
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Term
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Definition
Phenotype:hallucinations, restlessness, dementia
Genotype:36-120 repeats of CAG on Chr. 4
Inheritance: autosomal dominant |
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Term
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Definition
Phenotype:mental retardation if not treated
Genotype:PAH gene on chromosome 12
Inheritance:autosomal recessive |
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Term
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Definition
Phenotype:death at age 4, blind, deaf, mental retardation, paralysis, seizures, & slow growth
Genotype:chromosome 15, HEXA gene, HEXA enzyme
Inheritance:autosomal recessive |
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Term
| Familial Hypercholesterolemia |
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Definition
Phenotype:fatty patches, chest pain, heart attacks
Genotype:defect on chromosome 19 mutation on LDLR gene
Inheritance:autosomal recessive |
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Term
| Duchenne’s Muscular Dystrophy |
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Definition
Phenotype:muscle degeneration, death
Genotype:dystrophin gene, dystrophin protein
Inheritance:x-linked recessive |
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Term
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Definition
Phenotype:Have sparse pubic, facial, and body hair.
Have underdeveloped muscles, enlarged breasts.
Taller than other males in their family and have long legs, narrow shoulders, and wide hips.
Genotype:Inheriting an extra y chromosome
Inheritance:nondysjunction |
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Term
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Definition
Phenotype:mental retardation (worse in males), large ears, long face
Genotype:FMR1 gene repetition of CGG on the X chromosome
Inheritance:X-linked dominant |
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Term
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Definition
Phenotype:intellectual and developmental delay, sleep disturbance, seizures, jerky movements, happy demeanor, hand flapping
Genotype:chromosome 15 - UBE3A gene deleted on mother's chromosome
Inheritance:nondysjunction |
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Term
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Definition
Phenotype:almond shaped eyes, delayed motor, insatiable appetite
Genotype:deletion of part of fathers chromosome 15 (OCA2)
Inheritance:nondysjunction |
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Term
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Definition
Phenotype:people die in 40's, pain b/c of clots
Genotype:chromosome 2, a changed to g
Inheritance:autosomal recessive |
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Term
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Definition
Phenotype:dwarf-like
Genotype:FGFR3 gene on chromosome 4
Inheritance:autosomal dominant - sporadic mutation |
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Term
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Definition
Phenotype:dementia, memory loss, irritability, death
Genotype:mutation in APP (amyleoid precursor protein) on chromosome 21
Inheritance: autosomal dominant |
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