Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.

Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of Fallot...

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Detalles Bibliográficos
Autores principales: Oh, Dong Chul, Min, Jee Yeon, Lee, Moon Hee, Kim, Young Mi, Park, So Yeon, Won, Hea Sung, Kim, In Kyu, Lee, Young Ho, Yoo, Shi Joon, Ryu, Hyun Mee
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 2002
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054817/
https://www.ncbi.nlm.nih.gov/pubmed/11850602
Descripción
Sumario:Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of Fallot. Karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal microdeletion. These findings suggest the importance of performing FISH in pregnancies with prenatally detected tetralogy of Fallot.

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