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DrVirgo
Forum Junior  Topics: 731 Posts: 3487 |
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???
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study_ing
| Forum Fanatic  Topics: 179 Posts: 2261
is it A
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robin082006
| Forum Hero  Topics: 468 Posts: 5028
A, 22q11
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DrVirgo
| Forum Junior Topics: 731 Posts: 3487
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 ????
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rubina
| Forum Newbie Topics: 2 Posts: 22
catch 22 or digeorge syndrome.
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A DiGeorge also prader Willi, Angelman 15q- miller Dieker 17p- Wolf Hirschhorn 4p- cri-du-chat 5p- anything else?
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klimt
| Forum Guru Topics: 27 Posts: 600
agree A - 22Q11 sd
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