Journal of Plastic, Reconstructive & Aesthetic Surgery
Volume 63, Issue 4 , Pages 598-602 , April 2010

22q11 chromosome abnormalities and the cleft service

Received 14 November 2008 ,Accepted 7 January 2009.

References 

  1. Carlson C, Sirotkin H, Pandita R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997;61:620–629
  2. Sandrin-Garcia P, Abramides DV, Martelli LR, et al. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Mol Cell Biochem. 2007;303:9–17
  3. Scrambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000;9:2421–2426
  4. Oh AK, Workman LA, Wong GB. Clinical correlation of chromosome 22q11.2 flourescent in situ hybridization analysis andvelocardiofacial syndrome. Cleft Palate Craniofac J. 2007;44:62–66
  5. Shprintzen RJ, Goldberg RB, Lewin ML, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: Velocardiofacial syndrome. Cleft Palate J. 1978;15:56
  6. Shprintzen RJ, Siegl-Sadewitz VL, Amato J, et al. Retrospective diagnosis of previously missed syndromic disorders amongst 1000 patients with cleft lip, cleft palate or both. Birth Defects Orig Artic Ser. 1985;21:85
  7. Brunet A, Gabau E, Perich RM, et al. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. Am J Med Genet A. 2006;140:2426–2432
  8. Shouman N, Pabst B, Arslan-Kirchner M, et al. Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: a new diagnostic approach. Int J Oral Maxillofac Surg. 2003;32:198–200
  9. Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet. 1993;30:813–817
  10. Ruiter EM, Bongers EMHF, Smeets DFCM, et al. No justification of routine screening for 22q11 deletions in patients with overt cleft palate. Clin Genet. 2003;64:216–219
  11. Barisic I, Morozin Pohovski L, Petkovic I, et al. Screening of patients at risk for 22q11 deletion. Coll Antropol. 2008;32:165–169
  12. Vantrappen G, Rommel N, Devrient K, et al. Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Acta Otorhinolaryngol Belg. 2001;55:43–48
  13. McDonald-McGinn DM, Driscoll DA, Emanuel BS, et al. Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics. 1997;99:E9
  14. Bashir MA, Hodgkinson PD, Montgomery T, et al. 22q11 deletion in children with cleft lip and palate – is routine screening justified?. J Plast Reconstr Aesthet Surg. 2008;61:130–132
  15. Matsuoka R, Takao A, Kimura M, 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
  16. Ysunza A, Pamplona MC, Ramirez E, et al. Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome). Int J Pediatr Otorhinolaryngol. 2003;67:911–915
  17. Losken A, Kerwin Williams J, Burstein FD, et al. Surgical sorrection of velopharyngeal insufficiency in children with velocardiofacial syndrome. Plast Reconstr Surg. 2006;117:1493–1498
  18. Milczuk HA, Smith DS, Brockman JH. Surgical outcomes for velopharyngeal insufficiency in velocardiofacial syndrome and nonsyndromic patients. Cleft Palate Craniofac J. 2007;44:412–417
  19. Reyes MRT, LeBlanc EM, Bassila MK. Hearing loss and otitis media in velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol. 1999;47:227–233
  20. McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test. 1997;1:99–108
  21. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370:1443–1452

☆ Presented at Irish Association of Plastic Surgeons Winter Meeting, November 2007.

PII: S1748-6815(09)00073-4

doi: 10.1016/j.bjps.2009.01.021

Journal of Plastic, Reconstructive & Aesthetic Surgery
Volume 63, Issue 4 , Pages 598-602 , April 2010

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