Open AccessNeonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome
Author(s) -
Evelyn Ning Man Cheung,
Susan R. George,
Danielle M. Andrade,
Eva W.C. Chow,
Candice K. Silversides,
Anne S. Bassett
Publication year - 2013
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2013.71
Subject(s) - intellectual disability , medicine , digeorge syndrome , pediatrics , epilepsy , deletion syndrome , psychiatry , psychology , genetics , biology , phenotype , gene
Hypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized that neonatal hypocalcemia would be associated with rare, more severe forms of intellectual disability in 22q11.2 deletion syndrome.
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