Question

Low birthweight infant with microcephaly, prominent occiput, IUGR, micrognathia, and closed fists/overlapping digits:

a) Edward syndrome (Trisomy 18)
b) Patau syndrome (Trisomy 13)
c) Down syndrome (Trisomy 21)
d) Turner syndrome

Answer 1

The correct answer to the question is Edward syndrome (Trisomy 18), as the symptoms listed match those associated with this genetic disorder.

Step-by-step explanation:

The infant's symptoms, which include low birthweight with microcephaly, prominent occiput, IUGR, micrognathia, and closed fists/overlapping digits, are characteristic of Edward syndrome (Trisomy 18). Edward syndrome is a genetic disorder caused by the presence of an extra chromosome 18, which leads to severe developmental delays physical disabilities, and a high mortality rate during infancy.

While this condition shares some features with other chromosomal abnormalities like Down syndrome, also known as Trisomy 21 where an individual possesses three copies of chromosome 21 the specific combination of symptoms presented in the question aligns more closely with Trisomy 18. Moreover, Klinefelter syndrome (47 XXY) and Turner syndrome are distinct genetic disorders and do not match the symptoms described. Therefore, the correct answer is a) Edward syndrome (Trisomy 18).