Clinical feature of 22q11 mutation syndrome include which of the following manifestation?
Correct Answer: Conotruncal abnormalities
Description: Chromosome 22q11.2 deletion syndrome Small deletion of band q11.2 on the long arm of chromosome 22 Congenital hea defects(conotruncal abnormalities) Abnormalities of the palate Facial dysmorphism Developmental delay Variable degrees of T-cell immunodeficiency and hypocalcemia -The patient suffering from DiGeorge syndrome -High risk of development of ADHD and Schizophrenia.
Category:
Pathology
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