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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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Hlavní autoři: Sánchez, Javier, García-Díaz, Lutgardo, Chinchón, David, Antiñolo, Guillermo
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501810/
https://ncbi.nlm.nih.gov/pubmed/23198189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/794075
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