The flashcards below were created by user
Jswink
on FreezingBlue Flashcards.
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Achondroplasia
AD, FGF receptor mutation (new mutation)
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Familial hypercholesterolemia
AD, LDL receptor mutation, allelic heterogeneity
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Familial colon cancer
AD, locus heterogeneity
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Huntington-chorea
AD, trinucleotide repeat, anticipation
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Marfan syndrome
AD, fibrillin mutation, variable expressivity
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Myotonic dystrophy
AD, with anticipation; characterized by wasting of the muscles
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Neurofibromatosis
AD, variable expressivity; disordered skin pigmentation
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Osteogenesis imperfecta
AD, collegen mutation, variable expressivity, allelic heterogeneity
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Polycystic kidney disease
AD, with delayed onset
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Polydactyly
AD, variable expressivity: extra fingers
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Retinitis pigmentosa
AD, allelic heterogeneity: vision
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Sickle cell anemia
AR, environmental effect on allele frequency
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Tay-Sachs disease
AR, environmental effect on allele frequency
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α 1- antitrypsin deficiency
AR, emphysema
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Congenital deafness
AR, locus heterogeneity
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Cystic fibrosis
AR, mutationof CF transmembrane regulator gene
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Phenylketonurea
AR, deficiency ofphenylalanine hydroxylase
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Talassemia
AR,hemoglobin mutation, allelic heterogeneity
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Color vision defect
XR,deficiency in red and/or green color vision
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Duchenne muscular dystrophy
XR, early onset
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G6PD
XR, enzymedeficiency, environmental effect
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Hemophilia
XR,deficiency of blood clotting factor
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Testicular feminization
XR, testosterone receptor mutation
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Hypophosphatemia
XD, unresponsive tovitamin D treatment (soft bone)
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Fragile X syndrome
XD, trinucleotiderepeat, anticipation, variable penetrance
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Prader-Willi syndrome
15q microdeletion, genomicimprinting (paternal deletion)
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Angelman syndrome
15q microdeletion,genomic imprinting (maternal deletion)
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“Super men” syndrome
47 chr, XYY
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“Super women” syndrome
47 chr, XXX
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Down-syndrome
47 chr, 21 trisomy
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Edwards syndrome
47 chr, 18trisomy;heart abnormalities, kidney malformations, and other internal organ disorders.
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Klinefelter syndrome
47 chr, XXY
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Patau syndrome
47chr, 13 trisomy;multiple and complex organ defects.
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Turner syndrome
45 chr, XO
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Xeroderma pigmentosum
AR. repair enzyme deficiency Skin problem
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Bloom syndrome
genome instability; short stature, sun sensitivity, poor immunity, impaired fertility
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Cri du chat
5p chromosomal deletion
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