Autosomal domniamt disorders are

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

Marfanâs 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

Autosomal domniamt disorders are

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