Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions

Molecular and Cellular Probes

Volumn 22, Issue 5-6, 2008, Pages 316-319

  Grati, Francesca R ^a   Chinetti, Sara ^a   Malgara, Roberta ^b   Rognoni, Giulia ^b   Grimi, Beatrice ^a   De Toffol, Simona ^a   Milani, Silvia ^a   Dulcetti, Francesca ^a   Frascoli, Giuditta ^a   Di Meco, Anna Maria ^a   Liuti, Rosaria ^a   Trotta, Anna ^a   Coffa, Jordy ^c   Maggi, Federico ^a   Simoni, Giuseppe ^a  

^a TOMA Advanced Biomedical Assays SpA   (Italy)

^b SAN PAOLO HOSPITAL   (Italy)

^c MRC HOLLAND   (Netherlands)

Author keywords

Deletion; Duplication; Fluorescence in situ hybridization (FISH); Meiotic recombinants; Multiple ligation dependent probe amplification (MLPA); Pericentric inversions

Indexed keywords

ARTICLE; CHROMOSOME; CHROMOSOME ANALYSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GAMETE; GENETIC RECOMBINATION; HETEROZYGOTE; MEIOSIS; MEIOTIC RECOMBINANT; MONOSOMY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PERICENTRIC CHROMOSOME INVERSION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TELOMERE; TRISOMY;

CYTOGENETIC ANALYSIS; FEMALE; FETUS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MALE; MEIOSIS; PRENATAL DIAGNOSIS; RECOMBINATION, GENETIC; TELOMERE;

EID: 56449115836     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2008.06.004     Document Type: Article

References (7)

1. Nielsen J., Wohlert M., Faaborg-Andersen J., Hansen K.B., Hvidman L., Krag-Olsen B., et al. Incidence of chromosome abnormalities in newborn children. Comparison between incidences in 1969-1974 and 1980-1982 in the same area. Hum Genet 61 (1982) 98-101
2. Hansteen I.L., Varslot K., Steen-Johnsen J., and Langård S. Cytogenetic screening of a new-born population. Clin Genet 21 (1982) 309-314
3. In: Gardner R.J.M., and Sutherland G.R. (Eds). Chromosome abnormalities and genetic counselling. 3rd ed. Oxford monographs on medical genetics vol. 29 (2004), Oxford University Press, New York Oxford
4. Martin R.H. Abnormal spermatozoa in human translocation and inversion carriers. In: Daniel A. (Ed). The cytogenetics of mammalian autosomal rearrangements (1988), Alan R. Liss, New York 397-417
5. Kaiser P. Pericentric inversions. Problems and significance for clinical genetics. Hum Genet 68 (1984) 1-47
6. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., and Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30 (2002) e57
7. Northrop E.L., Ren H., Bruno D.L., McGhie J.D., Coffa J., Schouten J., et al. Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay. Hum Mutat 26 (2005) 477-486