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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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
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author 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
author_facet 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
author_sort Oh, Dong Chul
collection PubMed
description 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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spelling pubmed-30548172011-03-15 Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion. 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 J Korean Med Sci Research Article 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. Korean Academy of Medical Sciences 2002-02 /pmc/articles/PMC3054817/ /pubmed/11850602 Text en
spellingShingle Research Article
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
Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
title Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
title_full Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
title_fullStr Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
title_full_unstemmed Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
title_short Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
title_sort prenatal diagnosis of tetralogy of fallot associated with chromosome 22q11 deletion.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054817/
https://www.ncbi.nlm.nih.gov/pubmed/11850602
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