PEDIATRICS: GENETICS

PEDIATRICS: GENETICS 

Q#01

A 30-year-old man has genetically transmitted disease (homozygous). His wife is normal. They have 2 sons and 3 daughters. They are carriers of the disease (heterozygous). The man’s parents were the carrier. He has one sister who is not affected, other sister is a carrier, and one brother is affected and other brother is a carrier. His paternal grandmother was a carrier and paternal grandfather was not affected. His maternal grandfather was a carrier and maternal grandmother was not affected. 

The disease is most likely transmitted:

A. Autosomal recessive

B. Autosomal dominant

C. X-linked recessive

D. X-linked dominant

E. Multifactorial

Q#02

Mode of inheritance in retinoblastoma:

A. Autosomal dominant

B. Autosomal recessive

C. X-linked dominant

D. X-linked recessive

E. Multifactorial

Q#03

Most common mode of transmission in G6PD deficiency:

A. Autosomal recessive

B. Autosomal dominant

C. X-linked recessive

D. X-linked dominant

E. Multifactorial

Q#04

A 5-year-old girl was brought by her mother to a genetic clinic. The girl’s father is affected with a genetically transmitted disease. The girl’s mother is not affected. Father has one brother and two sisters. They are not affected. The girls paternal grandfather is not affected. The girls paternal grandmother’s brother is affected. The girl has two brothers. They are not affected. The disease is most likely transmitted.

A. Autosomal recessive

B. Autosomal dominant

C. X-linked recessive

D. X-linked dominant

E. Multifactorial

Q#05

A girl is affected with genetically transmitted disease. She has one brother and one sister. Both of them are not affected. Her father is affected with the disease but her mother is normal. Her father’s one brother (uncle) and one sister (aunt) are normal. Her mother’s siblings and parents are normal. Her paternal grandfather had the disease but paternal grandmother was normal. Her cousins i.e., uncle’s (father’s brother) siblings are normal.

The disease is most likely transmitted:

A. Autosomal dominant

B. Autosomal recessive

C. X-linked dominant

D. X-linked recessive

E. Multifactorial

PLZ CHECK ANSWERS ON 6th AUGUST 2019