An innocuous duplication of 11.2 mb at 13q21 is gene poor: Sub-bands of gene paucity and pervasive CNV characterize the Chromosome anomalies

American Journal of Medical Genetics, Part A

Volumn 143, Issue 20, 2007, Pages 2452-2459

  Daniel, Art ^a   Darmanian, Artur ^a   Peters, Greg ^a   Goodwin, Linda ^b   Hort, Jason R ^b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b Nepean and Blue Mountains District Hospitals   (Australia)

Author keywords

Autistic spectrum disorder; Chromosome anomalies; CNV; Euchromatic variants; Gene paucity; Innocuous duplications and deficiencies

Indexed keywords

ANEUPLOIDY; ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME 13Q; CHROMOSOME 14Q; CHROMOSOME 1P; CHROMOSOME 2P; CHROMOSOME 4P; CHROMOSOME 5P; CHROMOSOME 5Q; CHROMOSOME 8P; CHROMOSOME BAND; CHROMOSOME DUPLICATION; DNA MICROARRAY; GENETIC VARIABILITY; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ANEUPLOIDY; AUTISTIC DISORDER; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 13; GENE DOSAGE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; VARIATION (GENETICS);

EID: 34848823144     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31960     Document Type: Article

References (16)

1. Barber JCK. 2005. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42:609-629.
2. Barber JCK, Thomas NS, Collinson MN, Dennis NR, Liehr T, Weise A, Belitz B, Pfeiffer L, Kirchhof M, Krag-Olsen B, Lundsteen C. 2005. Segmental haploinsufficiency transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Eur J Hum Genet 13: 283-291.
3. Barber JC, Maloney VK, Bewes B, Wakeling E. 2006. Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype. Eur J Hum Genet 14:739-743.
4. Couturier J, Morichon-Delvallez N, Dutrillaux B. 1985. Deletion of band 13q21 is compatible with normal phenotype. Hum Genet 70:87-91.
5. Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brwon JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Franktsh AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, Ross MT. 2004. The DNA sequence and analysis of human chromosome 13. Nature 428:522-528.
6. Gu X, Wang J, Gu J. 2002. Age distribution of human gene families shows significant roles of both large- and small scale duplications in vertebrate evolution. Nat Genet 31:205-209.
7. Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Suguwara H, Ida T, Yoshiura K, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N. 2002. Duplication of 8p23.2: A benign cytogenetic variant? Am J Med Genet 111:285-288.
8. 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 36:941-951.
9. Jacquemont M-L, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, Heron D, de Blois M-C, Prieur M, Vekemans M, Carter NP, Munncih A, Colleaux L, Philippe A. 2006. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet 43:843-849.
10. Jobanputra V, Sebat J, Troge J, Chung W, Anyane-Yeboa K, Wigler M, Warburton D. 2005. Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genet Med 7: 111-118.
11. Li L, Moore P, Ngo C, Petrovic V, White SM, Northrop E, Ioannou PA, Gardner RJM, Slater HR. 2002. Identification of a haploinsufficient 3.6 Mb region in human chromosome 11q14.3-q21. Cytogenet Genome Res 97:158-162.
12. Liehr T, Schreyer I, Neumann A, Beensen V, Ziegler M, Hartmann I, Starke H, heller A, Nietzel A, Claussen U. 2002. Two more possible pitfalls of rapid prenatal diagnostics using interphase nuclei. Prenat Diagn 22:497-499.
13. Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, Hangaishi A, Kurokawa M, Chiba S, Bailey DK, Kennedy GC, Ogawa S. 2005. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 65:6071-6079.
14. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. 2004. Large scale copy number polymorphism in the human genome. Science 305:525-528.
15. Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoer NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. 2003. Array-based comparative genomic hybridization for the genome-wide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261-1270.
16. 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.