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Old 11-21-2012
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Arrow Billy Step 1 Questions # 92

Immediately following delivery, a newborn is observed to have multiple abnormalities, including a small lower jaw, abnormal feet, and hands that are clenched into fists. Despite supportive therapy for a congenital heart condition, the baby dies before 1 year of age. What is the likely etiology of the patientís condition?


(A) CAG tandem repeats
(B) Deletion of chromosome 21
(C) Trisomy of chromosome 13
(D) Trisomy of chromosome 18
(E) X chromosome fragility
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Old 11-21-2012
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Default my answer :)

(D) Trisomy of chromosome 18
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I choose D. Trisomy 18 Edward syndrome
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Old 11-21-2012
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Default Answer D

Edward Syndrome (Trisomy 18)
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Default D

D) Trisomy of chromosome 18
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Old 11-21-2012
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Quote:
Originally Posted by billy View Post
Immediately following delivery, a newborn is observed to have multiple abnormalities, including a small lower jaw, abnormal feet, and hands that are clenched into fists. Despite supportive therapy for a congenital heart condition, the baby dies before 1 year of age. What is the likely etiology of the patientís condition?


(A) CAG tandem repeats
(B) Deletion of chromosome 21
(C) Trisomy of chromosome 13
(D) Trisomy of chromosome 18
(E) X chromosome fragility
I think its "EDWARD just turned 18"
So (D) Trisomy of chromosome 18
abnomal feet- rock bottom foot
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Old 11-21-2012
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Correct Answer D is correct

This newborn has Edwardsí syndrome, or trisomy 18. Affected children are born with clenched fi sts, rockerbottom feet, micrognathia (a small lower jaw), congenital heart disease, and mental retardation. The survival rate of less than 1 year is similar to that of trisomy 13 (Patauís syndrome), from which it should be distinguished.
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