Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH

Cignini, Pietro and Dugo, Nella and Giorlandino, Claudio and Gauci, Rosaria and Spata, Anna and Capriglione, Stella and Cafà, Ester Valentina (2012) Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH. Journal of prenatal medicine, 6 (4). pp. 72-73. ISSN 1971-3290

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Abstract

Objective: a fetus with a ring chromosome 20 is presented. Methods: at 16 weeks’ gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety. Results: chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was extended for about 632.2 kb and a micro-deletion of the long arm in 20q13.33 region. Conclusion: this is the first case of a ring chromosome 20 diagnosed prenatally. This reinforces the importance of offering amniocentesis with a-CGH to make more accurate prenatal diagnosis.

Item Type:	Article
Uncontrolled Keywords:	Ring chromosome, array-CGH
Subjects:	600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 618 Altri rami della medicina; Ginecologia e ostetricia, Pediatria, Geriatria > 618.2 Ostetricia
Depositing User:	Gianni Aiello
Date Deposited:	29 May 2013 12:25
Last Modified:	10 Apr 2014 13:04
URI:	http://eprints.bice.rm.cnr.it/id/eprint/5443

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