Prenatal diagnosis of interstitially satellited 6p

Prenatal Diagnosis
Chih-Ping ChenW Wang

Abstract

To present the prenatal diagnosis of de novo interstitially satellited 6p and a review of the literature. 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). 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. 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 N...Continue Reading

Citations

May 15, 2007·Journal of Applied Genetics·Małgorzata KowalczykAgnieszka Tomaszewska
Apr 19, 2012·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Maria BuckschAhmed B Hamid
Mar 15, 2006·European Journal of Medical Genetics·Valérie DelagueAndré Mégarbané
Jan 20, 2007·American Journal of Medical Genetics. Part a·Sinitdhorn RujirabanjerdPornprot Limprasert
May 14, 2020·Journal of Clinical Laboratory Analysis·María Guadalupe DomínguezIngrid Patricia Dávalos-Rodríguez

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