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High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation

✍ Scribed by A. Guichet; S. Briault; Cl. Moraine

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 73 KB
Volume: 18
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199804)18:4<399::aid-pd311>3.0.co;2-4

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✦ Synopsis

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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