Question

The abnormality with symptoms of polydactyly, prominence of the posterior part of heel, cleft lip and intellectual disability is

• A. Down syndrome
• B. Klinefelter syndrome
• C. Patau syndrome
• D. Cri-du-chat syndrome

Answer 1

The correct option is C Patau syndrome

Patau syndrome is a chromosomal abnormality in which cells have an extra chromosome number 13. This extra genetic material disrupts normal development and causes severe intellectual disability and physical abnormalities in many parts of the body. They have very small or poorly developed eyes (microphthalmia), extra fingers or toes (polydactyly), an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone. Other signs include microcephaly and prominence of the posterior part of heel.

Down syndrome is caused due to trisomy of twenty first chromosome. Affected individual will have growth failure, flat back of head, congenital heart disease, small eyes and protruding toungue etc.

In Klinefelter syndrome there is extra X chromosomes present in males (44A + XXY). The person develops certain characteristics that resembles feminine nature like breast development, feminized physique etc.

Cri-du-chat (cat like cry) syndrome is caused due to the deletion of a part of the fifth chromosome. The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes, low birth weight and weak muscle tone in infancy.