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Characteristics of autosomal dominant disorders
A Transmitted in a vertical pattern
B New mutation may occur
C Skipped generation is not observed
D Consanguity between parents present
E 50% chance of carrier in offspring
Examples of autosomal dominant disorders are
A Neurofibromatosis
B Familial polyposis coli
C Marfan syndrome
D Fragile X syndrome
E Ducchene muscular dystrophy
Following are the autosomal dominant disorders
A Neurofibromatosis
B Marfan’s syndrome
C Wilson disease
D Duchene muscular dystrophy
E Hemophilia
Features of autosomal dominant disorders are
A Manifested in heterozygous state
B Both males and females are affected
C New mutations occur in germ cells of elderly father
D Complete penetrance is common
E Onset is in early life
Autosomal dominant disorders are
A Huntington's disease
B Marfan syndrome
C Polydactyly
D Cystic fibrosis
E Sickle cell anemia
Autosomal dominant disorders of surgical importance are
A Familial adenomatous polyposis
B Hereditary spherocytosis
C Multiple endocrine neoplasia
D Hemophilia
E Mucoviscidosis
Features of autosomal dominant disorders
A Follow Mendelian trait
B The trait mainly involves receptor and structural proteins
C May transmit into every generation
D Are expressed only in homozygous states
E In which males are more affected than females
The following are autosomal dominant disorders
A Neurofibromatosis
B Polycystic kidney disease
C Achondroplasia
D Diabetes insipidus
E Congenital adrenal hyperplasia
Autosomal recessive disorders are
A Thalassemia
B Glycogen storage disease
C Familial hypercholesterolemia
D Hypertension
E Mosaicism
Features of autosomal recessive disorders are
A Not expressed in heterozygous state
B Onset usually in early life
C Reduced penetrance
D Disease expression not uniform
E Females are more affected

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