High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation.
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.
Guichet
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Service de Génétique, Hôpital Bretonneau, Tours, France.
Briault
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Moraine
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D000328:Adult; D000653:Amniotic Fluid; D018244:Chromosomes, Artificial, Yeast; D002882:Chromosomes, Human, Pair 13; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome