Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization

American Journal of Medical Genetics, Part A

Volumn 149, Issue 10, 2009, Pages 2106-2112

  Hempel, Maja ^a,b   Brugués, Nuria Rivera ^a,b   Wagenstaller, Janine ^a,b   Lederer, Gaby ^a   Weitensteiner, Andrea ^a   Seidel, Heide ^a,c   Meitinger, Thomas ^a,b   Strom, Tim M ^a,b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c UNIVERSITY OF MUNICH   (Germany)

Author keywords

16p11.2 p12.2; Ear infection; Facial manifestation; Feeding problems; Microdeletion; SNP oligonucleotide array; Speech delay

Indexed keywords

ADOLESCENT; ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 16P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; EAR INFECTION; FACE MALFORMATION; FEEDING DISORDER; HUMAN; MALE; PRIORITY JOURNAL; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; FOLLOW-UP STUDIES; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; OTITIS; SYNDROME;

EID: 70349487010     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33042     Document Type: Article

References (12)

1. Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39:1071-1073. (Pubitemid 47340655)
2. Battaglia A, Novelli A, Bernardini L, Igliozzi R, Parrini B. 2009. Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. Am J Med Genet Part A 149A:1200-1204.
3. Ghebranious N, Giampietro PF, Wesbrook FP, Rezkalla SH. 2007. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation. Am J Med Genet Part A 143A:1462-1471. (Pubitemid 47051025)
4. Hernando C, Plaja A, Rigola MA, Perez MM, Vendrell T, Egocue J, Fuster C. 2002. Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations. J Med Genet 39:E24.
5. Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. 2006. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38:999-1001. (Pubitemid 44325923)
6. Kumar RA, Kara Mohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL. 2008. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 17:628-638.
7. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. 2000. Molecular mechanism for duplication 17p11.2 - The homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24:84-87. (Pubitemid 30041427)
8. Slavotinek AM. 2008. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124:1-17.
9. van Zelm MC, Reisli I, van der Burg M, Castano D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patino PJ, van Dongen JJ, Franco JL. 2006. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med 354:1901-1912. (Pubitemid 43872691)
10. Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM. 2007. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet 81:768-779. (Pubitemid 47596544)
11. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358:667-675. (Pubitemid 351240746)
12. Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C. 2002. Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci USA 99:6240-6245. (Pubitemid 34493296)