Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
Joint Authors
García-Díaz, Lutgardo
Antiñolo, Guillermo
Sánchez, Javier
Chinchón, David
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-11-05
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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, seizures, and retinitis pigmentosa.
Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14.
We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14), and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry.
This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy.
We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.
American Psychological Association (APA)
Sánchez, Javier& García-Díaz, Lutgardo& Chinchón, David& Antiñolo, Guillermo. 2012. Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14. Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-498643
Modern Language Association (MLA)
Sánchez, Javier…[et al.]. Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14. Case Reports in Genetics No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-498643
American Medical Association (AMA)
Sánchez, Javier& García-Díaz, Lutgardo& Chinchón, David& Antiñolo, Guillermo. Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14. Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-498643
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-498643