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74 Cards in this Set
- Front
- Back
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Achondroplasia
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Inheritance: Autosomal Dominant
Genetic Pathway: FGFR3 receptor overaction Characteristics: GAIN OF FUNCTION, dwarfism because growth plate closes too soon, 85% sporadic |
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Albinism
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Characteristics: deficiency in product of melanin pathway
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Anencephaly
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Characteristics: Failure of neural tube closure in head region
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Angelman Syndrome
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Inheritance: Imprinting(Paternal)
Genetic Pathway: Chromosome 15 deletion UBE3A Characteristics: little to no speech, happy puppet |
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Becker Dystrophy
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Inheritance: X-Linked recessive
Genetic Pathway: Deletion on dystrophin gene Characteristics: not as bad as Duchenne's, later onset, size of deletion doesn't matter--only wether or not the reading frame is disrupted |
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Becker Weideman Syndrome
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Inheritance: Imprinted gene with somatic mutation(UPD)
Genetic Info: Unkown Characteristics: Exomphalos, macroglossia, gigantism, hemihypertrophy of leg or arm |
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Breast Cancer
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Inheritance: Sex limited
Genetic Info: BRCA 1 and 2 Characteristics: Allelic heterogeneity |
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Campomelic Dysplasia
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Inheritance: Autosomal dominant but Mosaicism is seen
Genetic Info: SOX9 gene Characteristics: Bent bones, die young, Pierre Robin sequence |
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Charcot-Marie Tooth
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Inheritance: Microdeletion
Genetic Info: Chromosome 17 Characteristics: Neuromuscular distal muscle weakness, high arch of the foot |
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Colon Cancer
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Inheritance: May be familial
Genetic Info: High penetrance Characteristics: adenomouspolyposis |
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Congenital Generalized Hypertrichosis
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Inheritance: Silenced gene turned back on--Wolfman's Syndrome!
Genetic Info: unknown Characteristics: Atavistic mutation |
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Cystic Fibrosis
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Inheritance: Autosomal recessive
Genetic Info: unknown Characteristics: Northern European, lung, chloride transporter, secretions too thick, malabsorption |
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Deafness Autosomal Recessive DFNB1 gene Digenic inheritance, gap junction beta 2, cohexin 26, GJB2
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Inheritance: AR(can be pseudodominant)
Genetic Info: DFNB1 gene Characteristics: Digenic inheritance, gap junction beta 2, cohexin, GJB2 |
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DiGeorge Syndrome
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Diagnosable with FISH--common MR
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Duchenne Muscular Dystrphy
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Inheritance: X-linked recessive
Genetic Info: deletion in dystrophin gene, multi-exon, affects reading frame which is reason for severity Characteristics: muscle weakness, die in 20's Diagnosis: PCR and test blood sample |
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Early Onset Alzheimer's
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Temporal limited
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Fragile X Syndrome
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Inheritance: X-linked recessive
Genetic Info: Hypermethylation FMR-1 gene at X q28 caused by CGG repeat in its 5' UTR of exon 1; anticipation(Sherman Paradox) Characteristics: MR, macrocephaly, ears, relative tall, Autism, |
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Friedreich Ataxia
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Inheritance: GAA repeat on intron
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Gaucher Disease
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Inheritance: AR
Characteristics: storage accumulation in spleen and bone |
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Hemochromatosis
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Inheritance: AR
Genetic Info: non-penetrance(may be due to menstruation) Characteristics: due to too much iron, treat with phlebotomy |
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Hemochromatosis
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Inheritance: AR
Genetic Info: non-penetrance(may be due to menstruation) Characteristics: due to too much iron, treat with phlebotomy |
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Heredity Neuropathy/Liability to Pressure Palsy
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railroad law suit/ genetic discrimination
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Heredity Neuropathy/Liability to Pressure Palsy
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railroad law suit/ genetic discrimination
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Hemochromatosis
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Inheritance: AR
Genetic Info: non-penetrance(may be due to menstruation) Characteristics: due to too much iron, treat with phlebotomy |
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Heredity Neuropathy/Liability to Pressure Palsy
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railroad law suit/ genetic discrimination
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Holoprosencephaly (HPE)
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Inheritance: AD with variable expressivity--looks like AR trait because both parents are unaffected but one might have the trait at a LOW EXPRESSION
Genetic Info: Sonic hedgehog, epigenetic, digenic inheritance(body can compensate for heterozygosity) |
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Holoprosencephaly (HPE)
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Inheritance: AD with variable expressivity--looks like AR trait because both parents are unaffected but one might have the trait at a LOW EXPRESSION
Genetic Info: Sonic hedgehog, epigenetic, digenic inheritance(body can compensate for heterozygosity) |
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Huntington Disease
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Inheritance: neomorphic AD
Genetic Info: Triplet CAG repeat in exon causes hyperglutamination Characteristics: progressive dementia, size of expansion = age of onset, Male meiosis |
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Huntington Disease
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Inheritance: neomorphic AD
Genetic Info: Triplet CAG repeat in exon causes hyperglutamination Characteristics: progressive dementia, size of expansion = age of onset, Male meiosis |
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Holoprosencephaly (HPE)
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Inheritance: AD with variable expressivity--looks like AR trait because both parents are unaffected but one might have the trait at a LOW EXPRESSION
Genetic Info: Sonic hedgehog, epigenetic, digenic inheritance(body can compensate for heterozygosity) |
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Incontinentia Pigmenti
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Inheritance: X linked dominant
Genetic info: Male lethal Characteristics: 1/3 new mutation with a wide range of severities |
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Incontinentia Pigmenti
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Inheritance: X linked dominant
Genetic info: Male lethal Characteristics: 1/3 new mutation with a wide range of severities |
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Insulin Related DNA Polymorphism
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Inheritance: 14 bp repeat sequence
Genetic Info: fewer repeats is bad(>14 = higher risk for Type 1 DM) Characteristics: example of a variable number tandem repeat |
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Insulin Related DNA Polymorphism
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Inheritance: 14 bp repeat sequence
Genetic Info: fewer repeats is bad(>14 = higher risk for Type 1 DM) Characteristics: example of a variable number tandem repeat |
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Leri Weill/Madelung
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Inheritance: Y linked
Genetic Info: unknown Characteristics: forearm bones are weird, high in Amish population |
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Huntington Disease
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Inheritance: neomorphic AD
Genetic Info: Triplet CAG repeat in exon causes hyperglutamination Characteristics: progressive dementia, size of expansion = age of onset, Male meiosis |
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Leri Weill/Madelung Y linked forearm bones, Amish
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Inheritance: Y linked
Genetic Info: unknown Characteristics: forearm bones are weird, high in Amish population |
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Incontinentia Pigmenti
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Inheritance: X linked dominant
Genetic info: Male lethal Characteristics: 1/3 new mutation with a wide range of severities |
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Manoamine Oxidase Enzyme
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Inheritance: example of genotype polymorphism
Genetic Info: MAO breaks down NT--if failure then aggressive behavior Characteristics: polymorphism + exposure to aggressive environment = higher risk for disease |
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Manoamine Oxidase Enzyme
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Inheritance: example of genotype polymorphism
Genetic Info: MAO breaks down NT--if failure then aggressive behavior Characteristics: polymorphism + exposure to aggressive environment = higher risk for disease |
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Insulin Related DNA Polymorphism
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Inheritance: 14 bp repeat sequence
Genetic Info: fewer repeats is bad(>14 = higher risk for Type 1 DM) Characteristics: example of a variable number tandem repeat |
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Leri Weill/Madelung
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Inheritance: Y linked
Genetic Info: unknown Characteristics: forearm bones are weird, high in Amish population |
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Manoamine Oxidase Enzyme
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Inheritance: example of genotype polymorphism
Genetic Info: MAO breaks down NT--if failure then aggressive behavior Characteristics: polymorphism + exposure to aggressive environment = higher risk for disease |
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Hemochromatosis
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Inheritance: AR
Genetic Info: non-penetrance(may be due to menstruation) Characteristics: due to too much iron, treat with phlebotomy |
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Heredity Neuropathy/Liability to Pressure Palsy
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railroad law suit/ genetic discrimination
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Holoprosencephaly (HPE)
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Inheritance: AD with variable expressivity--looks like AR trait because both parents are unaffected but one might have the trait at a LOW EXPRESSION
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Huntington Disease
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Inheritance: neomorphic AD
Genetic Info: Triplet CAG repeat in exon causes hyperglutamination Characteristics: progressive dementia, size of expansion = age of onset, Male meiosis |
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Incontinentia Pigmenti
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Inheritance: X linked dominant
Genetic info: Male lethal Characteristics: 1/3 new mutation with a wide range of severities |
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Insulin Related DNA Polymorphism
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Inheritance: 14 bp repeat sequence
Genetic Info: fewer repeats is bad(>14 = higher risk for Type 1 DM) Characteristics: example of a variable number tandem repeat |
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Leri Weill/Madelung
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Inheritance: Y linked
Genetic Info: unknown Characteristics: forearm bones are weird, high in Amish population |
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Manoamine Oxidase Enzyme
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Inheritance: example of genotype polymorphism
Genetic Info: MAO breaks down NT--if failure then aggressive behavior Characteristics: polymorphism + exposure to aggressive environment = higher risk for disease |
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Marfan Syndrome
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Inheritance: AD
Genetic Info: Connective tissue dysplasia Characteristics: giantism, diseased vascular tissue, 50% is not enough |
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Mytonic Dystrophy
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Inheritance: Autosomal Triplet Repeat
Genetic Info: CTG repeat(always familial), variable onset Characteristics: involuntary muscle contraction, genetic anticipation = earlier onset with each generation; bias of ascertainment; >50 triplet repeat CTG in 3' untranscribedregion protein kinase gene |
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Neurofibromatosis
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Inheritance: AD
Genetic info: point mutation of NF1 gene on chromosome 17 q11 Characteristics: allelic heterogeneity |
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Lowe's Syndrome(Oculo-cerebro-renal-syndrome)
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Inheritance: X-linked
Genetic Info: males are affected worse than females Characteristics: Males get MR, cataracts, renal tubular acidosis--Females just get lenticular opacities |
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Osteogenesis Imperfecta
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Inheritance: AD negative
Genetic Info: Affects Alpha 1 Type 1 chains Characteristics: There are two Alpha 1 type 1 chains in every collagen, so there is a 75% that the fiber made will be crap |
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PKU
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Inheritance: AR
Genetic Info: toxicity of substrate accumulation Characteristics: pale, MR |
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Prader Willi Syndrome
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Inheritance: Imprinting(Maternal)
Genetic Info: Chrom 15 deletion on SNRPN1 Characteristics: hypotonia, failure to thrive, hyperphagia, hypogonadism, MR |
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Progeria
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Inheritance: AR
Characteristics: premature aging starting at 2 years old |
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Pyloric Stenosis
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Inheritance: example of the Carter effect
Genetic Info: more frequent in males Characteristics--projectile vomiting that can be cured with surgery |
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Retinitis Pigmentosa
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Inheritance: Digenic
Characteristics: rhodopsin blindness Digenic inheritance only happens when 2 carriers produce a double carrying child |
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Russell Silver Syndrome
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Inheritance: Somatic imprinting
Genetic Info: Maternal UPD of chrom. 11 Characteristics: Primordial dwarfism |
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Sickle Cell Anemia
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Inheritance: AR
Genetic Info: GAG changed to GTG on sickle cell gene Characteristics: anemia |
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Smith Magenis Syndrome
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Chromosome microdeletion
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Spina Bifida
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Failure of neural tube to close completely
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Tay Sachs Disease
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Inheritance: AR
Genetic Info: Characteristics: example of Founder's effect in Anasazi Jews, die around 2 years old |
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Thanatophoric Dysplasia
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Inheritance: Always a new mutation because it is fatal
Genetic info: FGFR3 mutation Characteristics: fatal |
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Trichorhinophalangeal Syndrome
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Inheritance: Microdeletion of chrom. 8
Characteristics: hair, nose, fingers affected |
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Edward's Syndrome
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Trisomy 18 causing clinch hand, rocker bottom feet, heart and CNS impariment
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Down Syndrome
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Inheritance: Nondisjunction causing trisomy 21
Genetic info: chromosome 21 or may be caused by a Robertsonian transolcation Characteristics: 5% survive to birth, advanced maternal age |
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Turner Syndrome
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Inheritance: 45X aneuploidy
Genetic info: may be caused by imbalanced inactivation Characteristics: Streak ovaries, webbed neck |
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VeloCardioFacial Syndrome
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Inheritance: Microdeletion on chrom 22
Characteristics: palate, heart, face, can be diagnosed with a genomic microarray |
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Werner's Syndrome
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Inheritance: AR
Characteristics: premature aging |
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Wolf Hirschhorn 4p deletion helmet face, microcephaly, hypotonia, MR die early
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4p deletion causing helmet face, microcephaly, hypotonia, MR causes eaerly death
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