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  • Title: Prenatal diagnosis of de novo trisomy 1(q21-qter)der(Y)t(Y;1) in a malformed live born.
    Author: Fernández-Novoa MC, Vargas MT, Granell MR, Carreto P.
    Journal: Prenat Diagn; 2004 Jun; 24(6):414-7. PubMed ID: 15229838.
    Abstract:
    OBJECTIVES: To present the prenatal diagnosis case of pure trisomy 1q21-qter with translocation to chromosome Y in all cells analysed. CASE: Amniocentesis for chromosomal analysis was performed at 15 gestational weeks because it showed a fetal nuchal thickness by ultrasound examination. GTG banding and FISH analysis were carried out. RESULTS: In spite of the unfavourable fetal prognosis, the couple decided to continue the gestation. Ultrasonographic controls performed between the 20th and 34th weeks showed a male fetus with multiple abnormalities. The propositus was born at 35 weeks' gestation, surviving 40 min. CONCLUSION: Our patient's clinical anomalies were compared with two cases of trisomy 1q in all cells and five mosaicisms with the object of defining this syndrome, which we consider important for future genetic counselling.
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