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Need for search for cryptic translocation in parents with several children affected with MCA: report of a cryptic translocation (10;14) detected by FISH.

par Delneste, Danielle;Vamos, Eszter ;Pierquin, G;Hayez, F.;Van Regemorter, Nicole
Référence Genetic counseling, 9, 2, page (97-102)
Publication Publié, 1998

Article révisé par les pairs

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Résumé :

The 3 affected children from 2 different wedlocks of the mother have been previously described (11). Search by FISH analysis in the mother revealed she is a carrier of balanced translocation of clear terminal G bands of equal sizes of the long arms of chromosomes 10 and 14. Chromosomal slides of the last child (Patient 3) could be analysed by fish and revealed that he did inherit the derivative chromosome 10. He had a partial trisomy 14 and a partial deletion of the long arm of chromosome 10. The clinical pictures correspondence to the possibly abnormal karyotypes will be discussed.