title: Microdeletions in 16p11.2 and  13q31.3 associated with  developmental delay and generalized  overgrowth.
abstract: Chromosome microarray analysis of  patients with developmental delay has provided evidence of small deletions or  duplications associated with this clinical phenotype. In this context, a 7.1- to  8.7-Mb interstitial deletion of chromosome 16 is well documented, but within  this interval a rare 200-kb deletion has recently been defined that appears to  be associated with obesity, or developmental delay together with overgrowth. We  report a patient carrying this rare deletion, who falls into the latter  clinical category, but who also carries a second very rare deletion in 13q31.3.  It remains unclear if this maternally inherited deletion acts as a second copy  number variation leading to pathogenic variation, or is non-causal and the true  modifiers are yet to be determined.
authors.affiliation: Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand.
authors.forename: A M
authors.initials: AM
authors.lastname: George
authors.forename: J
authors.initials: J
authors.lastname: Taylor
authors.forename: D R
authors.initials: DR
authors.lastname: Love
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002658:Developmental Disabilities / Q000150:complications* / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006130:Growth Disorders / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male