Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement

American Journal of Medical Genetics, Part A

Volumn 146, Issue 9, 2008, Pages 1166-1172

  Cooke, Susanna L ^a   Northup, Jill K ^b   Champaige, Neena L ^b   Zinser, William ^b   Edwards, Paul A W ^a   Lockhart, Lillian H ^b   Velagaleti, Gopalrao V N ^b,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b University of Texas Medical Branch School of Medicine   (United States)

^c MAYO CLINIC   (United States)

Author keywords

BAC FISH; Dup del(8p); Minor dysmorphism; OR repeat clusters; Tandem duplication

Indexed keywords

ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; CHROMOSOME 8P; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CLINICAL ASSESSMENT; CONGENITAL HEART MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; HUMAN; MICROARRAY ANALYSIS; MICROSCOPY; MOLECULAR GENETICS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 8; CYTOGENETICS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MODELS, GENETIC; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEIZURES;

EID: 43049109486     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32248     Document Type: Article

References (18)

1. Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour JA, Liehr T. 2005. Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Hum Genet 13:1131-1136.
2. Ciccone R, Mattina T, Giorda R, Bonaglia MC, Rocchi M, Pramparo T, Zuffardi O. 2006. Inversion polymorphisms and non-contiguous terminal deletions: The cause and the (unpredicted) effect of our genome architecture. J Med Genet 43:e19.
3. Fan Y-S, Siu VM, Jung JH, Farrell SA, Côté GB. 2001. Direct duplication of 8p21.3->p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features. Am J Med Genet 103:231-234.
4. Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, Scott CE, Smith J, Vetrie D, Gorman P, Tomlinson IP, Carter NP. 2003. DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36:361-374.
5. Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgengrantz S, Grammatico P, Dalpra L, Wood S, Danesino C, Zuffardi O. 1996. The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet 58:785-796.
6. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. 2001. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883.
7. Giglio S, Calvari V, Gregato G, Gimelli G, Camanini S, Giorda R, Ragusa A, Guerneri S, Selicorni A, Stumm M, Tonnies H, Venture M, Zollino M, Neri G, Barber J, Wieczorek D, Rocchi M, Zuffardi O. 2002. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 71:276-285.
8. Giorda R, Ciccone R, Gimelli G, Pramparo T, Beri S, Bonaglia MC, Giglio S, Genuardi M, Argenta J, Rocchi M, Zuffardi O. 2007. Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mut 28:459-468.
9. Graw SL, Sample T, Bleskan J, Sujansky E, Patterson D. 2000. Cloning, sequencing, and analysis of inv 8 chromosome breakpoints associated with recombinant 8 syndrome. Am J Hum Genet 66:1138-1144.
10. Huang HE, Chin SF, Ginestier C, Bardou VJ, Adelaide J, Iyer NG, Garcia MJ, Pole JC, Callagy GM, Hewitt SM, Gullick WJ, Jacquemier J, Caldas C, Chaffanet M, Birnbaum D, Edwards PA. 2004. A recurrent chromosome breakpoint in breast cancer at the NRG1/neuregulin 1/heregulin gene. Cancer Res 64:6840-6844.
11. Lee JA, Inoue K, Cheung CW, Shaw CA, Stankiewicz P, Lupski JR. 2006. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet 15:2250-2265.
12. Pramparo T, Giglio S, Gregato G, Gregori M, Patricelli MG, Ciccone R, Scappaticci S, Mannino G, Lombardi C, Pirola B, Giorda R, Rocchi M, Zuffardi O. 2004. Inverted duplications: How many of them are mosaic? Eur J Hum Genet 12:713-717.
13. Shimokawa O, Kurosayva K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. 2004. Molecular characterization of inv dup del(8p): Analysis of five cases. Am J Med Genet Part A 128A:133-137.
14. Shimokawa O, Miyake N, Yoshimura T, Sosonkina N, Harada N, Mizuguchi T, Kondoh S, Kishino T, Ohta T, Remco V, Takashima T, Kinoshita A, Yoshiura K, Niikawa N, Matsumoto N. 2005. Molecular characterization of del(8)(p2.3.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet Part A 136A:49-51.
15. Soler A, Sanchez A, Carrio A, Badenas C, Mila M, Borrell A. 2003. Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis. Prenat Diagn 23:319-322.
16. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 82:238-244.
17. Vermeesch JR, Thoelen R, Salden I, Raes M, Matthijs G, Fryns J-P. 2003. Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: A mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event. J Med Genet 40:e93.
18. Zuffardi O, Ciccone R, Giglio S, Pramparo T. 2006. Inversion chromosomes. In: Lupski JR, Stankiewicz P, editors. Genomic disorders: The genomic basis of disease. Totowa, NJ: Humana Press. p 289-299.