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  • Title: High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation.
    Author: Guichet A, Briault S, Moraine C.
    Journal: Prenat Diagn; 1998 Apr; 18(4):399-403. PubMed ID: 9602490.
    Abstract:
    We report a cryptic translocation ascertained in a family after the birth of a mentally retarded proband. High resolution chromosome examination revealed that the father had a subtle translocation between chromosome 5 and chromosome 13, 46, XY, t(5;13) (q35.2;q34). Two specific, non-routine techniques were associated for prenatal diagnosis: high resolution cytogenetic studies on the amniotic fluid and fluorescent in situ hybridization with YACs as specific telomeric probes. The fetus had the same cryptic translocation as his father.
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