Term
| What are the characteristics of the Pierre-Robin syndrome? |
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Definition
| micrognathia, glossoptosis, u-shaped cleft palate |
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Term
| What are the components of a VACTERL association? |
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Definition
| Vertebral problems, Anal problems, Trecho-esophageal fistula, Renal problems and Limb problems |
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Term
| VACTERL association is most common in children with? |
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Definition
| Diabetic mothers or mothers on Statin drugs |
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Term
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Definition
| malar hypoplasia, hearing loss, and may also show Pierre-Robin syndrome |
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Term
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Definition
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Term
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Definition
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Term
| Kariotype of Klinefelter syndrome |
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Definition
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Term
| Give examples of X linked recessive diseases. |
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Definition
| hemophilia A, fragile X syndrome, duchenne muscular dystrophy |
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Term
| The Gower manuever is a sign of what condition? |
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Definition
| Duchenne muscular dystrophy |
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Term
| Give examples of autosomal recessive diseases |
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Definition
| cystic fibrosis, sickle cell anemia, phenylketonuria (PKU), Tay Sachs disease |
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Term
| Give examples of autosomal dominant disease |
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Definition
| Huntington disease, Marfan syndrome, neurofibromatosis, familial hypercholesterolemia |
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Term
| Give an example of an x linked dominant disease |
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Definition
| Rett syndrome, characterized by obsessive hand washing/wringing |
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Term
| Give an example of a mitochondrial inherited disease |
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Definition
| MELAS: characterized by lactic acidosis and strokes |
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Term
| what are two types of mitochondrial inheritance? |
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Definition
homoplasmy: all mito's are similar
heteroplasmy: different types of mito's |
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Term
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Definition
| A retinal tumor that is 90% penetrant |
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Term
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Definition
| Has variable expressivity. Can have skin findings, ungual fibromas. 2/3 de novo mutations. |
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Term
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Definition
| Pleiotropy (effects different organ systems) also allelic heterogeneity |
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Term
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Definition
| locus heterogeneity- may be caused be a mutation in many different genes |
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Term
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Definition
| Delayed age of onset and is caused by exonic nucleotide expansion (i.e. poly-Q repeats), and genetic anticipation |
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Term
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Definition
| Incomplete dominance (homozygous condition leads to death) |
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Term
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Definition
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Term
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Definition
| expression of gene is modified by another gene (ex. blood antigens) |
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Term
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Definition
| Sex-influenced gene. Autosomal, but acts recessive in females and dominant in males |
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Term
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Definition
| environmental conditions that mirror genetic conditions |
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Term
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Definition
| Ex. 2/3 of tuberous sclerosis, 1/3 of duchenne muscular dystrophy |
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Term
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Definition
| only some germ cells are affected, b/c mutation occurred post-fertilization. Effects are less severe |
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Term
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Definition
| One cell line is preferentially inactivated. Normally 50%, but if inactivation hits 80% could see clinical effects |
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Term
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Definition
| microdeletion of 4p. "greek helmet", hypertelorism, mental retardation |
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Term
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Definition
| 5p microdeletion. Babies have a 'cat cry' sound. Microcephaly, hypertelorism, mental retardation |
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Term
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Definition
| 22q11 microdeletion. Increase chance of schizophrenia, facial abnormalities, cleft lip, hypospadia, heart defects |
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Term
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Definition
| 7q11 microdeletion, wide mouth, puffy eyes, loquacious, musical proclivity |
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Term
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Definition
AD, 50% de novo, 100% penetrance, pleiotropy, and genetic anticipation.
AKA von recklinghausen's disease |
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Term
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Definition
| 22q12 microdeletion, VIII CN vestibular schwannomas --> hearing loss |
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Term
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Definition
| gender affected threshold of liability. More common in boys. If a girl has it, higher risk for sibs |
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Term
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Definition
| adult onset multi-factorial disease. Mutations to FVL gene |
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Term
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Definition
| Thrombosis, diabetes, colorectal cancer, breast cancer, schizophrenia |
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Term
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Definition
| Genetic anticipation, due to non coding trinucleotide repeats |
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Term
| List some Non coding trinucleotide repeat diseases (all have genetic anticipation) |
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Definition
| Fragile X, myotonic dystrophy, spinocerebellar ataxia types 8/12 |
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Term
| List some exonic trinucleotide repeat diseases (also, examples of genetic anticipation) |
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Definition
| Huntington Disease, spinocerebellar ataxia (except types 8/12), and spinobulbar muscular dystrophy |
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Term
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Definition
| genetic anticipation from non-coding trinucleotide repeats of CTG in the 3' UTR |
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Term
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Definition
differential expression of genetic material, depending on whether it was inherited from the mother or father
Ex. Huntington disease, myotonic dystrophy, fragile X, neurofibromatosis |
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Term
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Definition
| When both homologous chromosomes are inherited from one parent. If both female the placenta does not develop. If both male, the embryo does not develop, may cause hydatidiform mole. |
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Term
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Definition
| A hydatidiform mole is a pregnancy/conceptus in which the placenta contains grapelike vesicles that are usually visible with the naked eye. The vesicles arise by distention of the chorionic villi by fluid. When inspected in the microscope, hyperplasia of the trophoblastic tissue is noted. If left untreated, a hydatidiform mole will almost always end as a spontaneous abortion |
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Term
| Prader-Willi syndrome is caused by microdeletions on chromosome 15 of the __________ chromosome |
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Definition
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Term
| Angelman syndrome is caused by microdeletion on chromosome 15 of the ________ chromosome |
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Definition
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Term
| How does uniparental disomy affect PWS and AS? |
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Definition
PWS - maternal uniparental disomy (caused by loss of paternal genes)
AS - paternal uniparental disomy (caused by loss of maternal genes) |
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