The Journal of Pediatrics
Volume 155, Issue 4 , Pages 560-565.e1 , October 2009

DiGeorge Anomaly in the Absence of Chromosome 22q11.2 Deletion

  • Alan F. Rope, MD

      Affiliations

    • Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT
    • Corresponding Author InformationReprint requests: Dr Alan F. Rope, 50 North Medical Drive, 2C412 SOM, Salt Lake City, UT, 84132.
    • ,
  • Deborah L. Cragun, MS

      Affiliations

    • Biology Department, University of Tampa, FL
    • ,
  • Howard M. Saal, MD

      Affiliations

    • Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
    • ,
  • Robert J. Hopkin, MD

      Affiliations

    • Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

Received 16 January 2009 ,Revised 4 March 2009 ,Accepted 9 April 2009.

References 

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  2. DiGeorge A. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. Birth Defects Original Article Series. 1968;IV:116–121
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  5. Lammer EJ, Opitz JM. The DiGeorge anomaly as a developmental field defect. Am J Med Genet Suppl. 1986;2:113–127
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  9. Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet. 1992;44:261–268
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  11. Hou JW, Wang JK, Tsai WY, Chou CC, Wang TR. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. J Formos Med Assoc. 1997;96:419–423
  12. Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, et al. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet. 1994;53:285–289
  13. Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nordenskjold M, et al. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics. 1991;10:201–206
  14. Robin NH, Shprintzen RJ. Defining the clinical spectrum of deletion 22q11.2. J Pediatr. 2005;147:90–96
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  16. Brauner R, Le Harivel de Gonneville A, Kindermans C, Le Bidois J, Prieur M, Lyonnet S, et al. Parathyroid function and growth in 22q11.2 deletion syndrome. J Pediatr. 2003;142:504–508
  17. Finocchi A, Di Cesare S, Romiti ML, Capponi C, Rossi P, Carsetti R, et al. Humoral immune responses and CD27 + B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatr Allergy Immunol. 2006;17:382–388
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  24. Al-Jenaidi F, Makitie O, Grunebaum E, Sochett E. Parathyroid gland dysfunction in 22q11.2 deletion syndrome. Horm Res. 2007;67:117–122
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  27. Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003;362:1366–1373
  28. Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet. 2007;80:510–517
  29. Shooner KA, Rope AF, Hopkin RJ, Andelfinger GU, Benson DW. Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations. J Pediatr. 2005;146:382–387
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 The authors declare no conflicts of interest.

PII: S0022-3476(09)00377-1

doi: 10.1016/j.jpeds.2009.04.010

The Journal of Pediatrics
Volume 155, Issue 4 , Pages 560-565.e1 , October 2009

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