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High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation
Author(s) -
Guichet A.,
Briault S.,
Moraine Cl.
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199804)18:4<399::aid-pd311>3.0.co;2-4
Subject(s) - chromosomal translocation , biology , fluorescence in situ hybridization , amniotic fluid , chromosome , prenatal diagnosis , karyotype , chromosome analysis , genetics , proband , in situ hybridization , microbiology and biotechnology , fetus , pregnancy , gene , mutation , gene expression
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. © 1998 John Wiley & Sons, Ltd.