The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
Open accessAbstract
Background: Chromosomal abnormalities are a major cause of mental retardation and multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances has mainly been done by standard karyotyping. Previous array CGH studies on selected patients with chromosomal phenotypes and normal karyotypes suggested an incidence of 10–15% of previously unnoticed de novo chromosomal imbalances. Objective: To report array CGH screening of a series of 140 patients (the largest published so far) with idiopathic MCA/MR but normal karyotype. Results: Submicroscopic chromosomal imbalances were detected in 28 of the 140 patients (20%) and included 18 deletions, seven duplications, and three unbalanced translocations. Seventeen of 24 imbalances were confirmed de novo and 19 were assumed to be causal. Excluding subtelomeric imbalances, our study identified 11 clinically relevant interstitial submicroscopic imbalances (8%). Taking this and previously reported studies into consideration, array CGH screening with a resolution of at least 1 Mb has been undertaken on 432 patients with MCA/MR. Most imbalances are non-recurrent and spread across the genome. In at least 8.8% of these patients (38 of 432) de novo intrachromosomal alterations have been identified. Conclusions: Array CGH should be considered an essential aspect of the genetic analysis of patients with MCA/MR. In addition, in the present study three patients were mosaic for a structural chromosome rearrangement. One of these patients had monosomy 7 in as few as 8% of the cells, showing that array CGH allows detection of low grade mosaicisims.
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Cites
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557
Pinkel, D., Segraves, R., Sudar, D., Clark, S., Poole, I., Kowbel, D., Collins, C., Kuo, W.-L., Chen, C., Zhai, Y., et al. (1998) · Nature Genetics · doi:10.1038/2524 · Cited by 2,240
Gene quantification using real-time quantitative PCR
Ginzinger, D. G. (2002) · Experimental Hematology · doi:10.1016/s0301-472x(02)00806-8 · Cited by 1,278
Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
Solinas-Toldo, S., Lampel, S., Stilgenbauer, S., Nickolenko, J., Benner, A., Döhner, H., Cremer, T., & Lichter, P. (1997) · Genes, Chromosomes and Cancer · doi:10.1002/(sici)1098-2264(199712)20:4<399::aid-gcc12>3.0.co;2-i · Cited by 1,002
Catalogue of Unbalanced Chromosome Aberrations in Man
Schinzel, A. (1983) · De Gruyter eBooks · doi:10.1515/9783112329047 · Cited by 758
Diagnostic genome profiling in mental retardation
de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605
Shaw-Smith, C., Redon, R., Rickman, L., Rio, M., Willatt, L., Fiegler, H., Firth, H., Sanlaville, D., Winter, R., Colleaux, L., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.017731 · Cited by 513
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
Flint, J., Wilkie, A. O. M., Buckle, V. J., Winter, R. M., Holland, A. J., & McDermid, H. E. (1995) · Nature Genetics · doi:10.1038/ng0295-132 · Cited by 507
Vissers, L. E. L. M., de Vries, B. B. A., Osoegawa, K., Janssen, I. M., Feuth, T., Choy, C. O., Straatman, H., van der Vliet, W., Huys, E. H. L. P. G., van Rijk, A., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/379977 · Cited by 469
Cited by
Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882
Self-citationRecurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804
Self-citationDiagnostic genome profiling in mental retardation
de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605
Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580
Detectable clonal mosaicism and its relationship to aging and cancer
Jacobs, K. B., Yeager, M., Zhou, W., Wacholder, S., Wang, Z., Rodriguez-Santiago, B., Hutchinson, A., Deng, X., Liu, C., Horner, M.-J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2270 · Cited by 589
Metadata
- Authors
- Menten, B., Maas, N., Thienpont, B., Buysse, K., Vandesompele, J., Melotte, C., de Ravel, T., Van Vooren, S., Balikova, I., Backx, L., Janssens, S., De Paepe, A., De Moor, B., Moreau, Y., Marynen, P., Fryns, J.-P., Mortier, G., Devriendt, K., Speleman, F., & Vermeesch, J. R.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2006-02-20
- Volume
- 43
- Issue
- 8
- Pages
- 625-633
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2101446132
- Cited by
- 420
- References
- 28
- FWCI
- 32.87
- Type
- journal article
- Language
- en
- Open access
- green
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- Menten, B., Maas, N., Thienpont, B., Buysse, K., Vandesompele, J., Melotte, C., de Ravel, T., Van Vooren, S., Balikova, I., Backx, L., Janssens, S., De Paepe, A., De Moor, B., Moreau, Y., Marynen, P., Fryns, J.-P., Mortier, G., Devriendt, K., Speleman, F., & Vermeesch, J. R. (2006). Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2005.039453
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