Resolution of trisomic mosaicism in prenatal diagnosis: Estimated performance of a 50K SNP microarray

Prenatal Diagnosis

Volumn 27, Issue 13, 2007, Pages 1197-1204

  Cross, Julian ^a   Peters, Greg ^a   Wu, Zhanhe ^a   Brohede, Jesper ^b,c   Hannan, Garry N ^b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b CSIRO   (Australia)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

FISH; Mosaicism; Prenatal diagnosis; SNP microarray

Indexed keywords

ARTICLE; CENTROMERE; CYTOGENETICS; DILUTION; DNA EXTRACTION; DNA MICROARRAY; FETUS KARYOTYPING; FIBROBLAST; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INTERMETHOD COMPARISON; INTERPHASE; MALE; MICROARRAY ANALYSIS; MOLECULAR PROBE; MOSAICISM; MUTATIONAL ANALYSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS; STUDENT T TEST; TRISOMY 8; X CHROMOSOME; Y CHROMOSOME;

CELL LINE; FEMALE; GENETIC SERVICES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

EID: 37349042458     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1884     Document Type: Article

References (21)

1. Altug-Teber O, Dufke A, Poths S, et al. 2005. A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat 26: 153-159.
2. Ballif BC, Rorem EA, Sundin K, et al. 2006. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet 140A: 2757-2767.
3. Benkhalifa M, Kasakyan S, Clement P, et al. 2005. Array comparative genomic hybridization profiling of first trimester spontaneous abortions that failed to grow in vitro. Prenat Diagn 25(10): 894-900.
4. Donaghue C, Mann K, Docherty Z, Mackie Ogilvie C. 2005. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 25(1): 65-72.
5. Evans MI, Henry GP, Miller WA, et al. 1999. International collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used. Hum Reprod 14(5): 1213-1216.
6. Fan YS, Jayakar P, Zhu H, et al. 2007. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat 28(11): 1124-1132.
7. Gardner RJM, Sutherland GR. 2003. Chromosome Abnormalities and Genetic Counselling (3rd edn). Oxford University Press: New York.
8. Hook EN. 1977. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 29(1): 94-97.
9. Huang J, Wei W, Zhang J, et al. 2004. Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum Genet 1(4): 287-299.
10. Le Caignec C, Boceno M, Saugier-Veber P, et al. 2005. Detection of genomic imbalances by array based comparative genomic hybridization in fetuses with multiple malformations. J Med Genet 42(2): 121-128.
11. Miura S, Miura K, Masuzaki H, et al. 2006. Microarray comparative genomic hybridization (CGH) - based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid. J Hum Genet 51(5): 412-417.
12. Neas K, Peters G, Jackson J, et al. 2006. Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association. Clin Dysmorphol 15(1): 1-8.
13. Rauch A, Füschendorf F, Huang J, et al. 2004. Molecular karyotyping using an SNP array for genomewide genotyping. J Med Genet 41(12): 916-922.
14. Rickman L, Fiegler H, Carter NP, Bobrow M. 2005. Prenatal diagnosis by array-CGH. Eur J Med Genet 48(3): 232-240.
15. Rickman L, Fiegler H, Shaw-Smith C, et al. 2006. Prenatal detection of unbalanced chromosomal rearrangements by array-CGH. J Med Genet 43(4): 353-361.
16. Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Martin CL. 2004. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 74(6): 1168-1174.
17. Shuster E. 2007. Microarray genetic screening: a prenatal roadblock for life? Lancet 369: 526-529.
18. Slater HR, Bailey DK, Ren H, et al. 2005. High-resolution identification of chromosome abnormalities using oligonucleotide arrays containing 116,204 SNPs. Am J Hum Genet 77(5): 709-726.
19. Vermeesch JR, Melotte C, Froyen G, et al. 2005. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. JHistochem Cytochem 53(3): 413-422.
20. Wallerstein R, Yu MT, Neu RL, et al. 2000. Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations. Prenat Diagn 20(2): 103-122.
21. Wilkening S, Chen B, Wirtenbergcr M, et al. 2007. Allelotyping of pooled DNA with 250K SNP microarrays. BMC Genomics 8: 77.