Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizur...

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Bibliographic Details
Main Authors: Javier Sánchez, Lutgardo García-Díaz, David Chinchón, Guillermo Antiñolo
Format: Article
Language:English
Published: Hindawi Limited 2012-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2012/794075