Chromosome 15q24 microdeletion syndrome

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Magoulas, Pilar L ^a   El Hattab, Ayman W ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MISSOURI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING);

AMNION FLUID; AUTISM; BRACHYDACTYLY; BRAIN DEVELOPMENT; CARDIOVASCULAR MALFORMATION; CHROMOSOME 15Q24 MICRODELETION SYNDROME; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CRYPTORCHISM; DIAGNOSTIC PROCEDURE; DIAPHRAGM HERNIA; DNA MICROARRAY; EAR INFECTION; ECHOCARDIOGRAPHY; EPICANTHUS; FALLOT TETRALOGY; FEEDING DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENERAL PRACTITIONER; GENETIC COUNSELING; GROWTH RETARDATION; HEARING LOSS; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTELORISM; HYPOSPADIAS; INTELLECTUAL IMPAIRMENT; KARYOTYPE; KYPHOSIS; LOW BIRTH WEIGHT; MENINGOMYELOCELE; MICROCEPHALY; MICROPHTHALMIA; MOLECULAR GENETICS; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NOONAN SYNDROME; NUTRITIONAL COUNSELING; NYSTAGMUS; OCCUPATIONAL THERAPY; OTITIS MEDIA; PHYSICAL THERAPY EDUCATION; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; RECURRENT INFECTION; REVIEW; SCOLIOSIS; SPEECH THERAPY; SYNDACTYLY; UROGENITAL TRACT MALFORMATION; CHROMOSOME 15; CHROMOSOME ABERRATION; DEVELOPMENTAL DISORDER; GENETICS;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; HUMANS;

EID: 84855281874     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-2     Document Type: Review

References (23)

1. Characterization of a recurrent 15q24 microdeletion syndrome. Sharp AJ, Seizer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJL, de Vries BBA, Zuffardi O, Eichler EE, Human Molecular Genetics 2007 16 567 572 10.1093/hmg/ddm016 17360722 (Pubitemid 46522619)
2. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Klopocki E, Graul-Neumann LM, Grieben U, Tonnies H, Ropers H, Horn D, Mundlos S, Ullman R, Eur J Pediatr 2008 167 903 908 10.1007/s00431-007-0616-7 17932688 (Pubitemid 351904600)
3. Congenital diagphragmatic hernia is part of the new 15q24 microdeletion syndrome. Van Esch H, Backx L, Pijkels E, Fryns J, European Journal of Medical Genetics 2009 52 153 156 10.1016/j.ejmg.2009.02.003 19233321
4. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott M, Lanpher BC, Ou Z, Kang SL, Patel A, Scaglia F, Lupski JR, Cheung S, Stankiewicz P, Hum Genet 2009 126 589 602 10.1007/s00439-009-0706-x 19557438
5. Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M, Am J Med Genet Part A 2009 149A 2813 2819 10.1002/ajmg.a.33097 19921647
6. Multiple cysts of the corpos callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH. Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca A-L, Ben Salem D, Giroud M, Guiband L, Huet F, Mugneret F, Faivre L, Am J Med Genet Part A 2009 149A 1504 1510 10.1002/ajmg.a.32904 19533778
7. Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants. El-Hattab AW, Zhang F, Maxim R, Christensen KM, ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung S, Genetics in Medicine 2010 12 573 586 10.1097/GIM.0b013e3181eb9b4a 20860070
8. A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identified an atypical deletion that narrows the critical region. McInnes LA, Nakamine A, Pilorge M, Brandt T, Jiminez Gonzalez P, Fallas M, Manghi E, Edelmann L, Glessner J, Hakonarson H, Betancur C, Buxbaum JD, Molecular Autism 2010 1 5 10.1186/2040-2392-1-5 20678247
9. Structural variation of chromosomes in autism spectrum disorder. Marshall CR, Noor A, et al. Am J Hum Genet 2008 82 477 488 10.1016/j.ajhg.2007.12.009 18252227
10. Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: Identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13. Smith M, Filipek PA, Wu C, Bocian M, Hakim S, Modahl C, Spence MA, Am J Med Genet 2000 96 765 770 10.1002/1096-8628(20001204)96: 6<765::AID-AJMG13>3.0.CO;2-L 11121177
11. A copy number variation morbidity map of developmental delay. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCraken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussman J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE, Nature Genetics 2011 43 838 846 10.1038/ng.909 21841781
12. DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Kashork CD, Spikes AS, Shaffer LG, Lupski JR, Am J Med Genet 1999 64 471 478 (Pubitemid 129500529)
13. Structural variation in the human genome. Lupski JR, N Engl J Med 2007 356 1169 1171 10.1056/NEJMcibr067658 17360997 (Pubitemid 46425604)
14. Mechanisms for human genomic rearrangements. Gu W, Zhang F, Lupski JR, Pathogenetics 2008 1 4 10.1186/1755-8417-1-4 19014668
15. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR, Nat Genet 2009 41 849 853 10.1038/ng.399 19543269
16. A microhomology-mediated break-induced replication model for the origin of human copy number variation. Hastings PJ, Ira G, Lupski JR, PLoS Genet 2009 5 1000327 10.1371/journal.pgen.1000327 19180184
17. Mechanisms of change in gene copy number. Hasting PJ, Lupski JR, Rosenberg SM, Ira G, Nat Rev Genet 2009 10 551 564 19597530
18. Microarray analysis of PDGFR alpha + populations in ES cell differentiation culture identifies genes involved in differentiation of mesoderm and mesenchyme including ARID3b that is essential for development of embryonic mesenchymal cells. Takebe A, Era T, Okada M, Martin Jakt L, Kuroda Y, Nishikawa S, Dev Biol 2006 293 25 37 10.1016/j.ydbio.2005.12.016 16530748
19. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández- Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A, Am J Hum Genet 2007 80 550 560 10.1086/512203 17273977
20. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC, Am J Hum Genet 2007 80 1179 1187 10.1086/518177 17503335 (Pubitemid 47579353)
21. A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. Kilholm Lund AB, Hove HD, Kirchhoff M, Eur J Med Genet 2008 51 520 526 10.1016/j.ejmg.2008.07.008 18755302
22. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Girirajan S, Rosenfeld JA, et al. Nat Genet 2010 42 203 209 10.1038/ng.534 20154674
23. Prenatal prognosis in isolated congenital diaphragmatic hernia. Datin-Dorriere V, Rouzies S, Taupin P, Walter-Nicolet E, Benachi A, Sonigo P, Mitanchez D, Am J Obstet Gynecol 2008 198 1 80.e5 18538164