How to Cite this Article: Tarquinio DC, Jones MC, Jones KL, Bird LM. 2012. Growth charts for 22q11 deletion syndrome. Am J Med Genet Part A 158A: 2672–2681.
Growth charts for 22q11 deletion syndrome†
Article first published online: 6 AUG 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2672–2681, November 2012
How to Cite
Tarquinio, D. C., Jones, M. C., Jones, K. L. and Bird, L. M. (2012), Growth charts for 22q11 deletion syndrome. Am. J. Med. Genet., 158A: 2672–2681. doi: 10.1002/ajmg.a.35485
- Issue published online: 17 OCT 2012
- Article first published online: 6 AUG 2012
- Manuscript Accepted: 25 APR 2012
- Manuscript Received: 10 JAN 2012
- DiGeorge syndrome;
- velo-cardio-facial syndrome;
- 22q11.2 deletion syndrome;
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.