Question
Identify the syndrome by looking at the karyotype shown in the picture below?
A. Down’s syndrome.
B. Patau syndrome.
C. Noonan syndrome.
D. Turner’s syndrome.
Show Answer
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Correct Answer » B
Explanation
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Patau syndrome is the least common and most severe of the viable autosomal trisomies.
Median survival is fewer than 3 days.
First identified as a cytogenetic syndrome in 1960, Patau syndrome is caused by an extra copy of chromosome 13, a medium-length acrocentric chromosome.
- Many of the clinical features widely vary; however, severe mental deficiency is a consistent feature in children born with Patau syndrome.
- Holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, facial clefting, neural tube defects and heart defects are also frequent clinical features.
- Patau syndrome is generally recognized at birth by the presence of structural birth defects and poor neurologic performance.
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