[Incidental discovery of DMD gene deletions by chromosomal microarray analysis].

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  • Author(s): Song T;Song T; Li Y; Xu Y; Dang Y; Wan S; Zheng Y; Zhang J
  • Source:
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2019 Aug 10; Vol. 36 (8), pp. 773-776.
  • Publication Type:
    Journal Article
  • Language:
    Chinese
  • Additional Information
    • Source:
      Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
    • Publication Information:
      Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
      Original Publication: Chengdu : Hua xi yi ke da xue,
    • Subject Terms:
      Gene Deletion* ; Incidental Findings* ; Microarray Analysis*; Dystrophin/*genetics ; Muscular Dystrophy, Duchenne/*genetics; Exons ; Female ; Fetus ; Humans ; Male ; Pregnancy
    • Abstract:
      Objective: To discuss the value of chromosomal microarray analysis (CMA) for the identification of DMD gene deletions during prenatal diagnosis.
      Methods: G-banded karyotyping and CMA were performed on fetuses with ultrasonographic soft markers but no family history for Duchenne/Becker muscular dystrophy (DMD/BMD). Denaturing high-performance liquid chromatograghy (DHPLC) was used to detect DMD gene mutations in umbilical cord blood and peripheral blood samples from the mothers.
      Results: For fetus 1, analysis of amniocytes showed a normal karyotype, while CMA detected a 119 kb deletion at Xp21.1 (32 565 489 - 32 681 461), which encompassed exons 10 to 16 of the DMD gene. The result was confirmed by DHPLC analysis. The mother was found to have loss of heterozygosity in the same region. For fetus 2, karyotyping of amniocytes also showed a normal male karyotype, while CMA detected a 254 kb deletion at Xp21.1 (32 104 604 - 32 358 874), which encompassed exons 41 to 44 of the DMD gene. The same deletion was not detected in the mother. DHPLC analysis confirmed the presence of both deletions.
      Conclusion: Two fetuses harboring DMD gene deletions but without a family history were discovered. CMA can improve the efficiency for detecting single gene diseases caused by deletions.
    • Accession Number:
      0 (DMD protein, human)
      0 (Dystrophin)
    • Publication Date:
      Date Created: 20190811 Date Completed: 20190924 Latest Revision: 20190925
    • Publication Date:
      20231215
    • Accession Number:
      10.3760/cma.j.issn.1003-9406.2019.08.005
    • Accession Number:
      31400125