Fetal translocation between chromosomes 2, 18, and 21 resolved by fish |
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| Authors: | Isabella Delaroche Margherita Sabani Giuseppe Calabrese Rita Mingarelli Giandomenico Palka Professor Bruno Dallapiccola |
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| Institution: | 1. Laboratorio Centrale CRI, Roma, Italy;2. Istituto di Biologia e Genetica, Università'G. D'Annunzio', Chieti, Italy;3. Cattedra di Genetica Umana Università Tor Vergata, Roma, Italy
Ospedale CSS, IRCCS, San Giovanni Rotondo, Italy |
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| Abstract: | An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22-week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics. |
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| Keywords: | complex translocation chromosomes FISH congenital heart disease |
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