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- W1974835670 abstract "Objectives To present the prenatal diagnosis of de novo interstitially satellited 6p and a review of the literature. Case An amniocentesis was performed at 18 weeks' gestation because of paternal balanced translocation, t(6;14)(p22;p12). Family history of the father showed the derivative chromosomes to be transmitted through at least two generations with three members affected with partial trisomy 6p (6p22 → 6pter). Results Cytogenetic analysis of the cultured amniocytes revealed an interstitial insertion of a nucleolar organizer region (NOR) in 6p22 and a karyotype of 46,XX, rec(6)ins(6;14)t(6;14)(6pter → 6p22::14p12 →14p12::6p22 → 6qter). Level II ultrasound examinations revealed normal findings. The parents opted to terminate the pregnancy. A 650-g fetus was delivered at 23 weeks' gestation without any gross abnormalities. Cytogenetic analysis of the cord blood lymphocytes confirmed the prenatal diagnosis. Conclusions The present case provides evidence that a de novo interstitial insertion of a NOR into a nonacrocentric chromosome can be derived from a parental balanced reciprocal translocation involving the satellite stalk region of an acrocentric chromosome. The NOR-inserted chromosome seems to be a harmless variant. However, a de novo interstitial NOR translocation can be pathogenic if there is genomic disruption at the site of translocation, which should be included in genetic counseling and perinatal investigation. Copyright © 2004 John Wiley & Sons, Ltd." @default.
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- W1974835670 date "2004-06-01" @default.
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- W1974835670 title "Prenatal diagnosis of interstitially satellited 6p" @default.
- W1974835670 doi "https://doi.org/10.1002/pd.911" @default.
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