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 Chromosomal aberration  



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Author7 Posts
  #1

38. An infant develops tetany on the second day of life. Physical examination is remarkable for dysmorphic facies with low-set ears and micrognathia. Determination of serum electrolytes reveals severe hypocalcemia. Which of the following chromosomal aberrations is most likely responsible for this presentation?

A. Deletion in chromosome 22

B. Monosomy of chromosome 5

C. Translocation of chromosome 21

D. Trisomy of chromosome 13

E. Trisomy of X chromosome



(Hint: It's DiGeorge's Syndrome...)... Answer???





  #2

is it A


  #3

A, 22q11


  #4

Right... This was not mentioned in the Kaplan reading... but it was in Q-bank!

Are there any more like these that we should be aware of ????



  #5

catch 22 or digeorge syndrome.


  #6

A DiGeorge

also prader Willi, Angelman 15q-
miller Dieker 17p-
Wolf Hirschhorn 4p-
cri-du-chat 5p-

anything else?


  #7

agree A - 22Q11 sd





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