Deletion 22q13.3 syndrome

Orphanet Journal of Rare Diseases

Volumn 3, Issue 1, 2008, Pages

  Phelan, Mary C ^a  

^a Molecular Pathology Laboratory Network Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SHANK3 PROTEIN, HUMAN;

ARTICLE; CHILD; CHROMOSOME 22; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENETICS; HUMAN; PRENATAL DIAGNOSIS; PROGNOSIS; SPEECH DISORDER; SYNDROME;

CARRIER PROTEINS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; GENETIC COUNSELING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PRENATAL DIAGNOSIS; PROGNOSIS; SPEECH DISORDERS; SYNDROME;

EID: 45349105098     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-3-14     Document Type: Review

References (19)

1. Molecular characterization of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. HL Wilson AAC Wong SR Shaw W-Y Tse GA Stapleton MC Phelan S Hu H Marshall HE McDermid, J Med Genet 2003 40 575 584 12920066 10.1136/jmg.40.8.575
2. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. MC Bonaglia R Giorda R Borgatti G Felisari C Gagliardi A Selicorni O Zuffardi, Am J Hum Genet 2001 69 261 268 11431708 10.1086/321293
3. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. JJ Luciani P de Mas D Depetris C Mignon-Ravix A Bottani M Prieur P Jonveaux A Phillipe G Bourrouillou B de Marginville B Delobel L Vallee MF Croquette MG Mattei, J Med Genet 2003 40 690 696 12960216 10.1136/jmg.40.9.690
4. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. HA Heilstedt BC Ballif LA Howard CD Kashork LG Shaffer, Clin Genet 2003 64 310 316 10.1034/j.1399-0004.2003.00126.x 12974736
5. Subtelomere FISH analysis of 11688 cases: an evaluation of the frequency of subtelomere rearrangements in individuals with developmental disabilities. JB Ravnan JH Tepperberg P Papenhausen AN Lamb J Hedrick D Eash DH Ledbetter CL Martin, J Med Genet 2006 43 478 489 10.1136/jmg.2005.036350 16199540
6. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. CM Durand C Betancur TM Boekers J Bockmann P Chaste R Fauchereau G Nygren M Rastam IC Gillberg H Anckarsater E Sponheim H Goubran-Botros R Delorme N Chabane MC Mouren-Simeoni P de Mas E Bieth B Roge D Heron L Burglen C Gillberg M Leboyer T Bourgeron, Nat Genet 2007 39 25 27 17173049 10.1038/ng1933
7. Array-based comparative genomic hybridization identifies high frequency of cryptic chromosomal rearrangement in patients with syndromic autism spectrum disorders. ML Jacquemont D Sanlaville R Redon O Raoul V Cormier-Daire S Lyonnet J Amiel M Le Merrer D Heron MD de Blois M Prieur M Vekemans NP Carter A Munnich L Colleaux A Phllippe, J Med Genet 2006 43 843 849 10.1136/jmg.2006.043166 16840569
8. Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. MA Manning SB Cassidy C Clericuzio AM Cherry S Schwartz L Hudgins GM Enns HE Hoyme, Pediatrics 2004 114 451 457 10.1542/peds.114.2.451 15286229
9. Molecular and phenotypic characterization of ring chromosome 22. AR Jeffries S Curran F Elmslie A Sharma S Wenger M Hummel Powell, Am J Med Genet A 2005 137 2 139 147 16059935
10. Deletion 22q13 syndrome (Phelan-McDermid syndrome. MC Phelan GA Stapleton RC Rogers, Management of Genetic syndromes Wiley-Liss, Inc, Suzanne Cassidy, Judith E Allanson, 2 2005 171 181
11. Specific genetic disorders and autism: clinical contributions toward their identification. D Cohen N Pichard S Tordjman C Baumann L Burglen E Excoffier G Lazar P Mazet C Pinquier A Verloes D Heron, J Autism Dev Disord 2005 35 103 116 10.1007/s10803-004-1038-2 15796126
12. FISH-mapping of a 100-kb terminal 22q13 deletion. BM Anderlid J Schoumans G Anneren I Tapia-Paez J Dumanski E Blennow M Nordenskjold, Hum Genet 2002 110 439 443 10.1007/s00439-002-0713-7 12073014
13. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. MC Bonaglia R Giorda E Mani G Aceti BM Anderlid A Baroncini T Pramparo O Zuffardi, J Med Genet 2006 43 822 828 10.1136/jmg.2005.038604 16284256
14. 22q13.3 deletion syndrome (Updated 2007). K Phelan, GeneReviews at GeneTests: Medical Genetics Information Resource (database online) Copyright, University of Washington, Seattle 2007 http://www.genetests.org
15. Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. GB Schaefer NJ Mendelsohn, Genet Med 2008 10 4 12 18197051
16. The phenotypic effects of chromosome rearrangements involving bands 7q21.3 and 22q13.3. A Slavotinek E Maher P Gregory P Rowlandson SM Huson, J Med Genet 1997 34 857 861 9350823
17. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a "pure" partial monosomy syndrome. JL Watt IA Olson AW Johnston HS Ross DA Couzin GS Stephen, J Med Genet 1985 22 283 287 4045954
18. Further delineation of the 22q13 deletion syndrome. SG Lindquist M Kirchhoff C Lundsteen W Pedersen G Erichsen K Kristensen K Lillquist HH Smedegaard L Skov N Tommerup K Brondum-Nielsen, Clin Dysmorphol 2005 14 2 55 60 10.1097/00019605-200504000-00001 15770125
19. Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome. M Tagaya S Mizuno M Hayakawa T Yokotsuka S Shimizu H Fujimaki, Clin Dysmorph 2008 17 19 21 18049075