High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1431-1437

  Heard, Patricia L ^a   Carter, Erika M ^a   Crandall, Analisa C ^a   Sebold, Courtney ^a   Hale, Daniel E ^a   Cody, Jannine D ^a  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

18q ; aCGH; Chromosome 18; Chromosome abnormality; Chromosome deletion

Indexed keywords

ARTICLE; CHROMOSOME 18Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; TELOMERE; TRISOMY;

CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; COMPARATIVE GENOMIC HYBRIDIZATION; GENOTYPE; HOMOZYGOTE; HUMANS; KARYOTYPING; MICROARRAY ANALYSIS; PLOIDIES; SOFTWARE;

EID: 67649881934     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32900     Document Type: Article

References (22)

1. Ballif BC, Yu W, Shaw CA, Kashork C, Shaffer LG. 2003. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12:2153-2165. (Pubitemid 37098986)
2. Brkanac Z, Cody JD, Leach RJ, DuPont BR. 1998. Identification of cryptic rearrangements in patients with 18q- deletion syndrome. Am J Hum Genet 62:1500-1506. (Pubitemid 28307121)
3. Chen P-L, Liu F, Cai S, Lin X, Li A, Chen Y, Gu B, Lee EY-HP, Lee W-H. 2005. Inactivation of CtIP leads to early embryonic lethality mediated by G restraint and tumorigenesis by haploid insufficiency. Mol Cell Biol 25:3525-3542. (Pubitemid 40559560)
4. Cody JD, Brkanac Z, Pierce JF, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Preferential loss of the paternal alleles in the 18q- syndrome. Am J Med Genet 69:280-286. (Pubitemid 27154670)
5. de Grouchy J. 1969. The 18p-, 18q- and 18r syndromes. Birth Defects Orig Artic Ser 5:74-87.
6. de Grouchy J, Royer P, Salmon C, Lamy M. 1964. Deletion partielle des bras longs du chromosome 18. Pathol Biol 12:579-582.
7. Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM. 2007. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map. Am J Med Genet Part A 143A:1858-1867. (Pubitemid 47206060)
8. Gajecka M, Mackay KL, Shaffer LG. 2007. Monosomy 1p36 deletion syndrome. Am J Med Genet Part C 145C:346-356. (Pubitemid 350155973)
9. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C, 11q Consortium. 2004. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet Part A 129A:51-61.
10. Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL. 2008. Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med 10:599-611.
11. Horbinski C, Carter EM, Heard PL, Santhanoori M, Hu J, Vockley J, Gunn S, Hale DE, Cody JD. 2008. Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication. Am J Med Genet 22:2898-2904.
12. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951. (Pubitemid 39167488)
13. Lejeune J, Gautier M, Turpin R. 1959. Etude des chromosomes somatiques de neuf enfants mongoliens. CR Acad Sci 248:1721-1722.
14. Li R, Rosendahl A, Brodin G, Cheng AM, Ahgren A, Sundquist C, Kulkarni S, Pawson T, Heldin CH, Heuchel RL. 2006. Deletion of exon I of SMAD7 in mice results in altered B cell responses. J Immunol 176:6777-6784. (Pubitemid 43787860)
15. Maas NMC, van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid B-M, Schoumans J, Hordijk R, Devriendt K, Fryns J-P, Vermeesch JR. 2008. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridization (CGH). J Med Genet 45:71-80. (Pubitemid 351252869)
16. Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival J-M, David V, Odent S, Pasquier L. 2008. Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress. Eur J Med Genet 52:41-46.
17. Schaub RL, Reveles XT, Baillargeon JG, Leach RJ, Cody JD. 2002. Molecular characterization of 18p deletions: Identification of a breakpoint cluster. Genet Med 4:15-19. (Pubitemid 44698459)
18. South ST, Rope AF, Lamb AN, Aston E, Glaus N, Whitby H, Maxwell T, Zhu XL, Brothman AR. 2008. Expansion in size of a terminal deletion: A paradigm shift for parental follow-up studies. J Med Genet 45:391-395. (Pubitemid 351839481)
19. Šubrt I, Pokorný J. 1970. Familial occurrence of 18q-. Hummangenetik 10:181-187.
20. Swinkels MEM, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BBA, Faas BHW, Schrander-Stumpel CTRM, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CMA. 2008. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet Part A 146A:1530-1538. (Pubitemid 351770207)
21. Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, MacAulay C, Ng RT, Brown CJ, Eichler EE, Lam WL. 2007. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80:91-104.
22. Zhang X, Snijders A, Segraves R, Zhang X, Neibuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D. 2005. High-resolution mapping of genotype-phenotype relationships in Cri Du Chat syndrome using array comparative genomic hybridization. Am J Hum Genet 76:312-326. (Pubitemid 40129557)