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Prenatal diagnosis of a fetus with a ring chromosome 20 characterized by array-CGH.
MedLine Citation:
PMID:  23272278     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Pietro Cignini; Nella Dugo; Claudio Giorlandino; Rosaria Gauci; Anna Spata; Stella Capriglione; Ester Valentina Cafà
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of prenatal medicine     Volume:  6     ISSN:  1971-3282     ISO Abbreviation:  J Prenat Med     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-12-28     Completed Date:  2012-12-31     Revised Date:  2013-05-30    
Medline Journal Info:
Nlm Unique ID:  101522906     Medline TA:  J Prenat Med     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  72-3     Citation Subset:  -    
Affiliation:
Department of Prenatal Diagnosis, Artemisia Fetal-Maternal Medical Center, Rome, Italy.
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