Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosomes

Journal of the Chinese Medical Association

Volumn 76, Issue 1, 2013, Pages 53-56

  Chen, Chih Ping ^a,b,c,d,e   Chen, Ming ^f   Ma, Gwo Chin ^f   Su, Yi Ning ^g   Ko, Tsang Ming ^h   Lin, Yi Hui ⁱ   Wang, Wayseen ^a,j  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e MACKAY MEDICAL COLLEGE   (Taiwan)

^f CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^g NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^h Genephile Bioscience Laboratory   (Taiwan)

ⁱ TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^j TATUNG UNIVERSITY   (Taiwan)

more..

Author keywords

Array comparative genomic hybridization; Complex chromosome rearrangement; Cryptic genomic imbalance; De novo apparently balanced reciprocal translocations

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; ARTICLE; CASE REPORT; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FEMALE; GENE; GENETIC COUNSELING; HUMAN; KARYOTYPE 46,XY; MALE; PRENATAL PERIOD; RECIPROCAL CHROMOSOME TRANSLOCATION; ULTRASOUND;

ADULT; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; TRANSLOCATION, GENETIC;

EID: 84872423101     PISSN: 17264901     EISSN: 17287731     Source Type: Journal    
DOI: 10.1016/j.jcma.2011.10.016     Document Type: Article

References (16)

1. Chen C.P., Chern S.R., Lee C.C., Lin C.C., Li Y.C., Hsieh L.J., et al. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements. Prenat Diagn 2006, 26:138-146.
2. Chen C.P., Wu P.C., Su Y.N., Chern S.R., Tsai F.J., Lee C.C., et al. Balanced reciprocal translocations at amniocentesis. Taiwan J Obstet Gynecol 2010, 49:455-467.
3. Lee N.C., Chen M., Ma G.C., Lee D.J., Wang T.J., Ke Y.Y., et al. Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints. Am J Med Genet 2010, 152A:2327-2334.
4. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosome identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991, 49:995-1013.
5. Chen C.P., Su Y.N., Tsai F.J., Lin H.H., Chern S.R., Lee M.S., et al. Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes. Taiwan J Obstet Gynecol 2009, 48:441-445.
6. Chen C.P., Su Y.N., Tsai F.J., Chern S.R., Hsu C.Y., Huang M.C., et al. Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization in pregnancy with abnormal ultrasound findings detected in late second and third trimesters. Taiwan J Obstet Gynecol 2010, 49:120-123.
7. Chen C.P., Su Y.N., Lin S.Y., Chang C.L., Wang Y.L., Huang J.P., et al. Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations. Taiwan J Obstet Gynecol 2011, 50:85-94.
8. Turleau C., de Grouchy J., Dufier J.L., Phuc L.H., Schmelck P.H., Rappaport R., et al. Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. Hum Genet 1981, 57:300-306.
9. Gribble S.M., Prigmore E., Burford D.C., Porter K.M., Ng B.L., Douglas E.J., et al. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 2005, 42:8-16.
10. De Gregori M., Ciccone R., Magini P., Pramparo T., Gimelli S., Messa J., et al. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007, 44:750-762.
11. Baptista J., Mercer C., Prigmore E., Gribble S.M., Carter N.P., Maloney V., et al. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet 2008, 82:927-936.
12. Schluth-Bolard C., Delobel B., Sanlaville D., Boute O., Cuisset J.M., Sukno S., et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet 2009, 52:291-296.
13. Tzschach A., Menzel C., Erdogan F., Istifli E.S., Rieger M., Ovens-Raeder A., et al. Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. Am J Med Genet 2010, 152A:1008-1012.
14. Anthoni H., Zucchelli M., Matsson H., Müller-Myhsok B., Fransson I., Schumacher J., et al. A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet 2007, 16:667-677.
15. Petryshen T.L., Pauls D.L. The genetics of reading disability. Curr Psychiatry Rep 2009, 11:149-155.
16. Scerri T.S., Morris A.P., Buckingham L.L., Newbury D.F., Miller L.L., Monaco A.P., et al. DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biol Psychiatry 2011, 10.1016/j.biopsych.2011.02.005.