Following are the autosomal recessive disorders:

Following are the autosomal recessive disorders

A

Galactosemia

B

Mucopolysaccharidosis

C

Neurofibromatosis

D

Haemophilia

E

Sydenhamâs chorea

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

Examples of autosomal recessive disorders are

A

Cystic fibrosis

B

Spinal muscular atrophy

C

Familial hypercholesterolemia

D

Diabetes insipidus

E

Duchenne muscular dystrophy

কোনটি autosomal recessive disorder?

A

রাতকানা

B

হিমোফিলিয়া

C

লাল-সবুজ বর্ণান্ধতা

D

থ্যালাসেমিয়া

When a patient inherits a disease as a recessive autosomal character

A

Both parents of the patient must carry the recessive genes

B

One of the parents of the patient must exhibit the disease

C

All childrens of the patient may exhibit the disease

D

All childrens of the patient will be carrier

E

Siblings of the patient have a 50% risk of the disorder

F

if both parents of the patient are carrier

Autosomal recessive disorder are:

A

Thalassaemia

B

Phenylketonuria

C

Congenital adrenal hyperplasia

D

Von willebrands disease

E

Achondroplasia

Following are the autosomal dominant disorders

A

Neurofibromatosis

B

Marfanâs syndrome

C

Wilson disease

D

Duchene muscular dystrophy

E

Hemophilia

The following are autosomal dominant disorders

A

Neurofibromatosis

B

Polycystic kidney disease

C

Achondroplasia

D

Diabetes insipidus

E

Congenital adrenal hyperplasia

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

Following are the autosomal recessive disorders:

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