Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis

Journal of Human Genetics

Volumn 56, Issue 11, 2011, Pages 810-812

  Shimojima, Keiko ^a   Okamoto, Nobuhiko ^b   Inazu, Tetsuya ^c,d   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c National Saigata Medical Center   (Japan)

^d RITSUMEIKAN UNIVERSITY   (Japan)

Author keywords

22q11.2 microduplication syndrome; fiber fluorescence in situ hybridization (FISH); low copy repeats 22 (LCR22); micro array comparative genomic hybridization; non allelic homologous recombination (NAHR)

Indexed keywords

BREAKPOINT CLUSTER REGION PROTEIN;

22Q11.2 MICRODUPLICATION SYNDROME; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA FLANKING REGION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DUPLICATION; GENE MUTATION; HOMOLOGOUS RECOMBINATION; HUMAN; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; NON ALLELIC HOMOLOGOUS RECOMBINATION; SEGMENTAL DUPLICATION; T BOX 1 GENE;

CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; HOMOLOGOUS RECOMBINATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; SEGMENTAL DUPLICATIONS, GENOMIC; SYNDROME;

EID: 82255196050     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.100     Document Type: Article

References (15)

1. Ensenauer, R. E., Adeyinka, A., Flynn, H. C., Michels, V. V., Lindor, N. M., Dawson, D. B. et al. Microduplication 22q11. 2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am. J. Hum. Genet. 73, 1027-1040 (2003). (Pubitemid 37414217)
2. Portnoï, M.-F. Microduplication 22q11. 2: a new chromosomal syndrome. Eur. J. Med. Genet. 52, 88-93 (2009).
3. Hassed, S. J., Hopcus-Niccum, D., Zhang, L., Li, S. & Mulvihill, J. J. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin. Genet. 65, 400-404 (2004). (Pubitemid 38659710)
4. Edelmann, L., Pandita, R. K., Spiteri, E., Funke, B., Goldberg, R., Palanisamy, N. et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 8, 1157-1167 (1999). (Pubitemid 29328983)
5. Shaikh, T. H., Kurahashi, H., Saitta, S. C., O'Hare, A. M., Hu, P., Roe, B. A. et al. Chromosome 22-specific low copy repeats and the 22q11. 2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 9, 489-501 (2000). (Pubitemid 30154007)
6. Stankiewicz, P. & Lupski, J. R. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18, 74-82 (2002). (Pubitemid 34127806)
7. Shimojima, K., Tanaka, K. & Yamamoto, T. A de novo Intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder. Am. J. Med. Genet. A 149A, 1359-1363 (2009).
8. Shimojima, K., Imai, K. & Yamamoto, T. A de novo 22q11.22q11.23 interchromoso-mal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. Am. J. Med. Genet. A. 152A, 2820-2826 (2010).
9. Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S. et al. Role of TBX1 in human del22q11.2 syndrome. Lancet. 362, 1366-1373 (2003). (Pubitemid 37338337)
10. Ou, Z., Berg, J. S., Yonath, H., Enciso, V. B., Miller, D. T., Picker, J. et al. Micro-duplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet. Med. 10, 267-277 (2008). (Pubitemid 351544129)
11. Courtens, W., Schramme, I. & Laridon, A. Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?-Report of two families. Am. J. Med. Genet. A. 146A, 758-763 (2008). (Pubitemid 351354151)
12. Schramm, C., Draaken, M., Bartels, E., Boemers, T. M., Aretz, S., Brockschmidt, F. F. et al. De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur. J. Med. Genet. 54, 9-13 (2011).
13. Lundin, J., Soderhall, C., Lunden, L., Hammarsjo, A., White, I., Schoumans, J. et al. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. Eur. J. Med. Genet. 53, 61-65 (2010).
14. Draaken, M., Reutter, H., Schramm, C., Bartels, E., Boemers, T. M., Ebert, A. K. et al. Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. Eur. J. Med. Genet. 53, 55-60 (2010).
15. Gu, W., Zhang, F. & Lupski, J. R. Mechanisms for human genomic rearrangements. Pathogenetics. 1, 4 (2008).