Congenital cardiac defects with 22q11 deletion
New cytogenetic techniques have promoted progress in determining the role of chromosomal abnormalities in the cause of congenital cardiac defects. Some patients with congenital cardiac defect have a microdeletion within chromosomal region 22q11, and a majority of them are conotruncal cardiac...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2003-07-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2891 |
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| author | Ozlem Giray Ayfer Ulgenalp Elçin Bora Gül Sağin Saylam Nurettin Unal Timur Meşe Suphi Hüdaoğlu Derya Erçal |
| author_facet | Ozlem Giray Ayfer Ulgenalp Elçin Bora Gül Sağin Saylam Nurettin Unal Timur Meşe Suphi Hüdaoğlu Derya Erçal |
| author_sort | Ozlem Giray |
| collection | DOAJ |
| description |
New cytogenetic techniques have promoted progress in determining the role of chromosomal abnormalities in the cause of congenital cardiac defects. Some patients with congenital cardiac defect have a microdeletion within chromosomal region 22q11, and a majority of them are conotruncal cardiac defects. To determine frequency in our population, we evaluated 36 patients with congenital cardiac defects, 23 of them with conotruncal cardiac defects. Microdeletion of 22q11 was detected in seven of 36 patients (19.4%), and in all deleted cases cardiac pathology was conotruncal.
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| format | Article |
| id | doaj-art-5eab28e03aa4446c99fbfe3971269bfa |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2003-07-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-5eab28e03aa4446c99fbfe3971269bfa2025-08-20T02:01:54ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212003-07-01453Congenital cardiac defects with 22q11 deletionOzlem Giray0Ayfer UlgenalpElçin BoraGül Sağin SaylamNurettin UnalTimur MeşeSuphi HüdaoğluDerya ErçalDepartment of Pediatric Genetics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey. New cytogenetic techniques have promoted progress in determining the role of chromosomal abnormalities in the cause of congenital cardiac defects. Some patients with congenital cardiac defect have a microdeletion within chromosomal region 22q11, and a majority of them are conotruncal cardiac defects. To determine frequency in our population, we evaluated 36 patients with congenital cardiac defects, 23 of them with conotruncal cardiac defects. Microdeletion of 22q11 was detected in seven of 36 patients (19.4%), and in all deleted cases cardiac pathology was conotruncal. https://turkjpediatr.org/article/view/2891 |
| spellingShingle | Ozlem Giray Ayfer Ulgenalp Elçin Bora Gül Sağin Saylam Nurettin Unal Timur Meşe Suphi Hüdaoğlu Derya Erçal Congenital cardiac defects with 22q11 deletion The Turkish Journal of Pediatrics |
| title | Congenital cardiac defects with 22q11 deletion |
| title_full | Congenital cardiac defects with 22q11 deletion |
| title_fullStr | Congenital cardiac defects with 22q11 deletion |
| title_full_unstemmed | Congenital cardiac defects with 22q11 deletion |
| title_short | Congenital cardiac defects with 22q11 deletion |
| title_sort | congenital cardiac defects with 22q11 deletion |
| url | https://turkjpediatr.org/article/view/2891 |
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