pathologies-begrepp genetics (col 1)

achondroplasia (7st) (första börjer med 80%..) 80% de novo, allelic heterogeneity, autosomal dominant, complete penetrance, compound heterozygosity, incomplete dominance, pleiotropy

if you have achondroplasia that is ... and ... ... it is lethal (fyll i luckorna) homozygotes, compound heterozygotes

hypochondroplasia is more severe than chondroplasia: TRUE/FALSE false

Hypochondroplasia (4st) allelic heterogeneity, autosomal dominant, compound heterozygosity, incomplete dominance

SADDAN is a type of chondrodysplasia disorder: TRUE/FALSE true

Achondroplasia is more severe than SADDAN: TRUE/FALSE false

which pathology causes both Acanthosis Nigricans and developmental delay (sever achondroplasia) SADDAN

SADDAN (3st) allelic heterogeneity, autosomal dominant, de novo

Thanatophoric dysplasia is usually not lethal in the perinatal period because the respiratory system is working normally: TRUE/FALSE false

Thanatophoric dysplasia is more severe than achonroplasia: TRUE/FALSE true

Thanatophoric dysplasia (3st) allelic heterogeneity, autosomal dominant, de novo

Hypochondroplasia is usually lethal: TRUE/FALSE false

SADDAN is usually lethal: TRUE/FALSE true

Thanatophoric dysplasia is usually lethal: TRUE/FALSE true

write pathology that causes increased cholesterol in the blood because of non-functioning LDL-receptor familial hypercholesterolemia

Familial hypercholesterolemia (7st) allelic heterogeneity, autosomal dominant, complete penetrance, compound heterozygosity, double heterozygosity, incomplete dominance, locus heterogeneity

write pathology where it is problems with production of heme --> leading to e.g photosensivity variegate porphyria

Variegate porphyria (6st) allelic heterogeneity, autosomal dominant, incomplete dominance, incomplete penetrance, pleitropy, variable expressivity

what is the procentage of incomplete penetrance in Variegate porphyria: ..-..% 10-40%

write pathology in which iron accumulates in the body: haemochromatosis

Haemochromatosis I II III (NOT IV) (6st) allelic heterogeneity, autosomal recessive, compound heterozygosity, incomplete penetrance, pleiotropy, variable expressivity

Haemochromatosis IV compered to I II III is autosomal ... dominant

write pathlogy that affects the lungs and the digestive system: cystic fibrosis

Cystic fibrosis (3st) allelic heterogeneity, autosomal recessive, compound heterozygosity

the life expectancy of cystic fibrosis is around .. years 40

Phenylketonuria (4st) allelic heterogeneity, autosomal recessive, compound heterozygosity, pleiotropy

write pathology in which glycogen is accumulated (mostly in heart and muscles) danon disease

danon disease (5st) allelic heterogeneity, complete penetrance, de novo, pleiotropy, X-linked dominant

Oligozoospermia is lack sperm in ejaculation: TRUE/FALSE false

Azoospermia is reduced sperm production: TRUE/FALSE false

Oligozoospermia is reduced sperm production: TRUE/FALSE true

Azoospermia, Oligospermia (2st) de novo, holandric

Leri Weil syndrome can come from both X and Y chromosome: TRUE/FALSE true

Azoospermia, Oligospermia can be lethal: TRUE/FALSE true

Leri Weil syndrome (5st) allelic heterogeneity, complete penetrance, incomplete dominance, pleiotropy, pseudoautosomal dominant

write pathology that e.g. causes short bones and Muscle hypertrophy (Pseudo-autosomal)increased muscle mass) (is leri weil syndrome

write pathology which causes e.g. colour blindness daltonism

Daltonism (5st) allelic heterogeneity, complete penetrance, incomplete dominance, pleiotropy, X-linked recessive

what is the procentage of de novo mutations in Haemophilia A 30%

which pathology causes the symptoms e.g. swollen joints and causes bleeding disorder (no blood cluts) DON`T HAVE VII in blood haemophilia A

Haemophilia A (5st) allelic heterogeneity, complete penetrance, pleiotropy, somatic mosaicism, X-linked recessive

which pathology causes the symptoms e.g. swollen joints and causes bleeding disorder (no blood cluts) DON`T HAVE IX in blood haemophilia B

Haemophilia B (4st) allelic heterogeneity, complete penetrance, pleiotropy, X-linked recessive

the incomplete penetrance in hemochromatosis for men is ..% and for women it is ..% 50, 20

which is the only pathology that has locus heterogeneity: familial hypercholesterolemia

SADDAN, thanatophoric dysplasia, achondroplasia=in case of homozygote AA are all exemples of lethal diseases

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