A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q

Cytogenetic and Genome Research

Volumn 139, Issue 1, 2012, Pages 59-64

  Barber, J C K ^a   Brasch Andersen, C ^c   Maloney, V K ^b   Huang, S ^b   Bateman, M S ^b   Graakjaer, J ^d   Heinl, U D ^e   Fagerberg, C ^c  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

^d LILLEBAELT HOSPITAL   (Denmark)

^e KOLDING HOSPITAL   (Denmark)

Author keywords

16p11.2 q11.2; Chromosome duplication; Copy number variant; DNA array; Euchromatic variant; Human chromosome pair 16; Pseudo dicentric

Indexed keywords

ARTICLE; ATTENTION DEFICIT DISORDER; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME 16; CHROMOSOME 16P; CHROMOSOME 16Q; CHROMOSOME DUPLICATION; CHROMOSOME VARIANT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DICENTRIC CHROMOSOME; DNA MICROARRAY; EUCHROMATIN; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HETEROCHROMATIN; HUMAN; HYPERMETROPIA; MALE; MICROCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOGENE; RETROGNATHIA; SEGMENTAL DUPLICATION;

ABNORMAL KARYOTYPE; ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME BANDING; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; EUCHROMATIN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE;

BACTERIA (MICROORGANISMS);

EID: 84870989613     PISSN: 14248581     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000342542     Document Type: Article

References (13)

1. Barber JC: Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42: 609-629 (2005).
2. Barber JC, Reed CJ, Dahoun SF, Joyce CA: Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum Genet 104: 211-218 (1999).
3. Barber JC, Zhang S, Friend N, Collins AL, Maloney VK, et al: Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. Cytogenet Genome Res 114: 351-358 (2006).
4. Barber JC, Hall V, Maloney VK, Huang S, Roberts A, et al: 16p11.2-p21.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2. Eur J Hum Genet doi: 10.1038/ejhg.2012.144. [Epub ahead of print].
5. Craig-Holmes AP, Shaw MW: Polymorphism of human constitutive heterochromatin. Science 174: 702-704 (1971).
6. Goumy C, Mihaescu M, Tchirkov A, Giollant M, Bonnet-Dupeyron MN, et al: An unusual familial chromosome 9 'variant' with variable phenotype: characterization by CGH analysis. Morphologie 89: 71-75 (2005).
7. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, et al: Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-161 (2009).
8. Jalal SM, Law ME, Dewald GW: Inverted duplication involving alpha satellite DNA resulting in a C-negative-band in the qh region of chromosome 16. Am J Med Genet 46: 351-352 (1993).
9. Joseph-George AM, He Y, Marshall CR, Wong RC, Macdonald JR, et al: Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions. J Med Genet 48: 317-322 (2011).
10. Lukusa T, Devriendt K, Holvoet M, Fryns JP: Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant. Am J Med Genet 91: 192-197 (2000).
11. Starke H, Seidel J, Henn W, Reichardt S, Volleth M, et al: Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 10: 790-800 (2002).
12. Whitby H, Tsalenko A, Aston E, Tsang P, Mitchell S, et al: Benign copy number changes in clinical cytogenetic diagnostics by array CGH. Cytogenet Genome Res 123: 94-101 (2008).
13. Willatt LR, Barber JC, Clarkson A, Simonic I, Raymond FL, et al: Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin. Eur J Hum Genet 15: 45-52 (2007).