Article
Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: a New Zealand perspective.
Molecular medicine reports - 1 May 2013
Doherty Elaine, O'Connor Rachel, Zhang Anna, Lim Christina, Love Jennifer M, Ashton Fern, Claxton Karen, Gregersen Nerine, George Alice M, Love Donald R
Abstract excerpt
Global developmental delay (GDD) affects ~1-3% of children, many of whom will also have intellectual disability (ID). Fragile X is the major genetic cause of GDD with mental retardation (MR) in males, accounting for ~20% of all X-linked MR. As Fragile X has serious genetic implications, the overwhelming majority of developmental delay (DD) cases referred to our laboratory are concerned with the exclusion of a...
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