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Growth charts for 22q11 deletion syndrome
Author(s) -
Tarquinio Daniel C.,
Jones Marilyn C.,
Jones Kenneth Lyons,
Bird Lynne M.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35485
Subject(s) - deletion syndrome , head circumference , growth chart , medicine , circumference , chart , pediatrics , goodness of fit , statistics , mathematics , biology , genetics , phenotype , birth weight , pregnancy , geometry , gene
Abstract The purpose of this work was to create growth curves specific to the 22q11.2 deletion syndrome. Growth parameters on 188 patients (86 females, 102 males) followed by a group of three dysmorphologists were collected by retrospective chart review. Growth charts for body mass, length/height, and head circumference were generated using a semi‐parametric model with goodness‐of‐fit tests. The resulting charts show that between 25 and 50% of children with 22q11.2 deletion syndrome fall below the 2nd centile for the normal population for all growth parameters. Establishing norms of growth for 22q11.2 deletion syndrome allows the clinician to identify and investigate those children who deviate substantially from the growth profile of this condition. © 2012 Wiley Periodicals, Inc.