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Severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8: a possible contribution of 2p duplication.

Jayalakshmi Narayan BhatBrittany MockAqeel AlaqeelAditya DewoolkarRicardo Gomez
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2021)
2p duplication syndrome is a rare syndrome characterized by developmental delay, feeding problems, FTT, hypotonia, constipation, and unusual facial features as noted in our case. However, hypercalcemia has been only reported once earlier in 2p duplication syndrome, which was the presenting feature of our case. We attributed this genetic syndrome as an underlying etiology for hypercalcemia after ruling out all the common potential causes of hypercalcemia.
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