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Primed in situ labeling technique for subtelomeric rearrangements in 70 children with idiopathic mental retardation

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Summary

Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labeling (PRINS) technique, using an oligonucleotide primer complementary to the telemetric repeat sequences (TTAGGG), can identify chromosome telomeric abnormality (deletion) in idiopathic MR children. In this study, seventy children with idiopathic MR were enrolled and subjected to PRINS. The results showed normal karyotype in all the children, subtelomeric rearrangements (1q del and 4q del) in 2 cases, which was confirmed by fluorescence in situ hybridization (FISH). It was concluded that PRINS is effective for the detection of subtelomeric rearrangements and may become a routine technique for cytogenetical abnormality screening.

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Authors and Affiliations

  1. Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Hong Tian  (田 虹) & Siqing Fu  (付四清)

  2. Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China

    Hui Yu  (余 慧) & Runming Jin  (金润铭)

Authors
  1. Hong Tian  (田 虹)
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  2. Hui Yu  (余 慧)
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  3. Siqing Fu  (付四清)
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  4. Runming Jin  (金润铭)
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Correspondence to Hong Tian  (田 虹).

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Tian, H., Yu, H., Fu, S. et al. Primed in situ labeling technique for subtelomeric rearrangements in 70 children with idiopathic mental retardation. J. Huazhong Univ. Sci. Technol. [Med. Sci.] 31, 834–836 (2011). https://doi.org/10.1007/s11596-011-0686-7

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  • DOI: https://doi.org/10.1007/s11596-011-0686-7

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