Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 1984-1989

  Rooryck, Caroline ^a,b   Souakri, Noui ^a   Cailley, Dorothée ^b   Bouron, Julie ^b   Goizet, Cyril ^a,b   Delrue, Marie Ange ^b   Marlin, Sandrine ^c   Lacombe, Feclad Didier ^a,b   Arveiler, Benoît ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Array CGH; Goldenhar syndrome; OAVS; Oculoauriculovertebral spectrum

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; FEMALE; FETUS; GENE DELETION; GENE DUPLICATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOGENESIS; PRIORITY JOURNAL;

EID: 77955302877     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33491     Document Type: Article

References (34)

1. Ala-Mello S, Siggberg L, Knuutila S, von Koskull H, Taskinen M, Peippo M. 2008. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am J Med Genet Part A 146A:2490-2494.
2. Alasti F, Van Camp G. 2009. Genetics of microtia and associated syndromes. J Med Genet 46:361-369.
3. Balci S, Engiz O, Yilmaz Z, Baltaci V. 2006. Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22). Genet Couns 17:281-289.
4. Buffoni L, Tarateta A, Aicardi G, Vianello MG, Bonioli E. 1976. Pituitary dwarfism and "Goldenhar type" multiple deformities in a patient with deletion of the short arm of chromosome 18. Minerva Pediatr 28:716-729.
5. Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F. 2008. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. Am J Med Genet Part A 146A:2109-2115.
6. Cohen MM Jr, Rollnick BR, Kaye CI. 1989. Oculoauriculovertebral spectrum: An updated critique. Cleft Palate J 26:276-286.
7. Dabir TA, Morrison PJ. 2006. Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: A case report. Clin Dysmorphol 15:25-27.
8. de Ravel TJ, Legius E, Brems H, Van Hoestenberghe R, Gillis PH, Fryns JP. 2001. Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor. Clin Dysmorphol 10:263-267.
9. Derbent M, Yilmaz Z, Baltaci V, Saygili A, Varan B, Tokel K. 2003. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet Part A 116A:129-135.
10. Digilio MC, Calzolari F, Capolino R, Toscano A, Sarkozy A, de Zorzi A, Dallapiccola B, Marino B. 2008. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet Part A 146A:1815-1819.
11. Digilio MC, McDonald-McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, Zackai EH. 2009. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet Part A 149A:2860-2864.
12. Fischer S, Ludecke HJ, Wieczorek D, Bohringer S, Gillessen-Kaesbach G, Horsthemke B. 2006. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet 15:581-587.
13. Goldenhar M. 1952. Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoïde épibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulofaciale. J Genet Hum 1:243-282.
14. Hathout EH, Elmendorf E, Bartley J. 1998. Hemifacial microsomia and abnormal chromosome 22. Am J Med Genet 76:71-73.
15. Herman GE, Greenberg F, Ledbetter DH. 1988. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q). Am J Med Genet 29:909-915.
16. Hodes ME, Gleiser S, DeRosa GP, Yune HY, Girod DA, Weaver DD, Palmer CG. 1981. Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. J Craniofac Genet Dev Biol 1:49-55.
17. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. 2009. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84:148-161.
18. Josifova DJ, Patton MA, Marks K. 2004. Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement. Clin Dysmorphol 13:151-153.
19. Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, Aymat A, Botma M, Calvert M, Goldblatt J, Haan EA, Laing NG, Lim J, Malcolm S, Singer SL, Winter RM, Bitner-Glindzicz M. 2001. Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet 109:638-645.
20. Kobrynski L, Chitayat D, Zahed L, McGregor D, Rochon L, Brownstein S, Vekemans M, Albert DL. 1993. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am J Med Genet 46:68-71.
21. Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP. 2009. Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. Am J Med Genet Part A 149A:2855-2859.
22. Miller R, Stephan MJ, Hume RF, Walker WO, Kelly P, Calhoun BC, Hoeldtke NJ, Hayden JE, Martin LS. 2001. Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn. Fetal Diagn Ther 16:120-122.
23. Niel F, Martin J, Dastot-Le Moal F, Costes B, Boissier B, Delattre V, Goossens M, Girodon E. 2004. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 41:e118.
24. Poswillo D. 1975. Hemorrhage in development of the face. Birth Defects Orig Artic Ser 11:61-81.
25. Pridjian G, Gill WL, Shapira E. 1995. Goldenhar sequence and mosaic trisomy 22. Am J Med Genet 59:411-413.
26. Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo JB, Chateil JF, Lacombe D, Arveiler B. 2009. 2.3Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene. Eur J Med Genet 52:446-449.
27. Rosser ZH, Balaresque P, Jobling MA.2009. Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot. Am J Hum Genet 85:130-134.
28. Soltan HC, Holmes LB. 1986. Familial occurrence of malformations possibly attributable to vascular abnormalities. J Pediatr 108:112-114.
29. Stankiewicz P, Beaudet AL. 2007. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17:182-192.
30. Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, Marche M, Bonnet F, Gorry P, Longy M, Lacombe D, Coupry I, Arveiler B. 2007. Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. Eur J Hum Genet 15:843-847.
31. Tasse C, Bohringer S, Fischer S, Ludecke HJ, Albrecht B, Horn D, Janecke A, Kling R, Konig R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. 2005. Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 48:397-411.
32. Vendramini-Pittoli S, Kokitsu-Nakata NM. 2009. Oculoauriculovertebral spectrum: Report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol 18:67-77.
33. Wang R, Martinez-Frias ML, Graham JM Jr. 2002. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. J Pediatr 141:611-617.
34. Xu J, Fan YS, Siu VM. 2008. A child with features of Goldenhar syndrome and a novel 1.12Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome? Am J Med Genet Part A 146A:1886-1889.