Growth charts for 22q11 deletion syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2672-2681

  Tarquinio, Daniel C ^a   Jones, Marilyn C ^b,c   Jones, Kenneth Lyons ^c   Bird, Lynne M ^b,c  

^a MIAMI CHILDREN'S HOSPITAL   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

22q11.2 deletion syndrome; DiGeorge syndrome; Growth; Stature; Velo cardio facial syndrome

Indexed keywords

ARTICLE; BODY HEIGHT; BODY MASS; BODY WEIGHT; CHILD; CHROMOSOME DELETION 22Q11; FEMALE; GROWTH CURVE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; BODY WEIGHTS AND MEASURES; CALIFORNIA; CHILD; CHILD, PRESCHOOL; DIGEORGE SYNDROME; FEMALE; GROWTH CHARTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84867869433     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35485     Document Type: Article

References (30)

1. Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J, International 22q11.2 Deletion Syndrome Consortium. 2011. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159: 332-339.
2. Brauner R, Le Harivel de Gonneville A, Kindermans C, Le Bidois J, Prieur M, Lyonnet S, Souberbielle JC. 2003. Parathyroid function and growth in 22q11.2 deletion syndrome. J Pediatr 142: 504-508.
3. Choi J-H, Shin Y-L, Kim G-H, Seo E-J, Kim Y, Park I-S, Yoo H-W. 2005. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res 63: 294-299.
4. Cole TJ, Green PJ. 1992. Smoothing reference centile curves: The LMS method and penalized likelihood. Stat Med 11: 1305-1319.
5. Cole TJ, Freeman JV, Preece MA. 1998. British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood. Stat Med 17: 407-429.
6. Devriendt K, Fryns J-P, Mortier G. 1998. The incidence of DiGeorge/velo-cardio-facial syndrome. J Med Genet 35: 789-790.
7. Digilio MC, Marino B, Cappa M, Cambiaso P, Giannotti A, Dallapiccola B. 2001. Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). Genet Med 3: 30-33.
8. Fine SE, Weissman A, Gerdes M, Pinto-Martin J, Zackai EH, McDonald-McGinn DM, Emanuel BS. 2005. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 35: 461-470.
9. Gerdes M, Solot C, Wang PP, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark BJ 3rd, Driscoll DA, Jawad A, Emanuel BS, McDonald-McGinn DM, Batshaw Ml, Zackai EH. 1999. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 85: 127-133.
10. Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. 1993. Velo-cardio-facial syndrome: A review of 120 patients. Am J Med Genet 45: 313-319.
11. Goodship J, Cross I, Liling J, Wren C. 1998. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79: 348-351.
12. Jawad AF, McDonald-McGinn DM, Zackai E, Sullivan KE. 2001. Immunological features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velo-cardio-facial syndrome). J Pediatr 139: 715-723.
13. Jolin EM, Weller RA, Jessani NR, Zackai EH, McDonald-McGinn DM, Weller EB. 2009. Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome. J Affect Disord 119: 177-180.
14. Markert ML, Hummell DS, Rosenblatt HM, Schiff SE, Harvill TO, Williams LW, Schiff RI, Buckley RH. 1998. Complete DiGeorge syndrome: Persistence of profound immunodeficiency. J Pediatr 132: 15-21.
15. McDonald-McGinn DM, Emanuel BS, Zackai EH. 1999. 22q11.2 deletion syndrome. 1999 Sep 23 [updated 2005 Dec 16]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993
16. McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. 1997. The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1: 99-108.
17. McDonald-McGinn DM, Sullivan KE. 2011. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 90: 1-18.
18. Momma K, Matsuoka R, Takao A. 1999. Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH22). Pediatr Cardiol 20: 97-102.
19. Moss EM, Batshaw ML, Solot CB, Gerdes M, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Wang PP. 1999. Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr 134: 193-198.
20. Niklasson L, Rasmussen P, Oskarsdottir S, Gillberg C. 2001. Neuropsychiatric disorders in the 22q11 deletion syndrome. Genet Med 3: 79-84.
21. Pan H, Cole TJ. 2004. A comparison of goodness of fit tests for age-related reference ranges. Stat Med 23: 1749-1765.
22. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 34: 798-804.
23. Scherer NJ, D'Antonion LL, Rodgers JR. 2001. Profiles of communication disorder in children with velocardiofacial syndrome: Comparison to children with Down syndrome. Genet Med 3: 72-78.
24. Shprintzen RJ. 2008. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14: 3-10.
25. Solot CB, Gerdes M, Kirschner RE, McDonald-McGinn DM, Moss E, Woodin M, Aleman D, Zackai EH. 2001. Communication issues in 22q11.2 deletion syndrome: Children at risk. Genet Med 3: 67-71.
26. Solot CB, Knightly C, Handler SD, Gerdes M, McDonald-McGinn DM, Moss E, Wang P, Cohen M, Randall P, Larossa D, Driscoll DA. 2000. Communication disorders in the 22q11.2 microdeletion syndrome. J Commun Disord 33: 187-203.
27. Swillen A, Vogels A, Devriendt K, Fryns JP. 2000. Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet (Semin Med Genet) 97: 128-135.
28. Weinzimer SA. 2001. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med 3: 19-22.
29. Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Moshang T. 1998. Growth hormone deficiency in patients with a 22q11.2 deletion: Expanding the phenotype. Pediatr 101: 929-932.
30. Woodin M, Wang PP, Aleman D, McDonald-McGinn D, Zackai E, Moss E. 2001. Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med 3: 34-39.