Academic Journal
Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
| العنوان: | Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. |
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| المؤلفون: | Hurst, J A, Meinecke, P, Baraitser, M |
| بيانات النشر: | BMJ Publishing Group Ltd |
| سنة النشر: | 1991 |
| المجموعة: | HighWire Press (Stanford University) |
| مصطلحات موضوعية: | Research Article |
| الوصف: | A girl is described with bilateral retinal colobomata, Fallot's tetralogy, unilateral choanal atresia, abnormalities of the external ears, bilateral sensorineural deafness, a unilateral facial nerve palsy, and a tracheo-oesophageal fistula. A clinical diagnosis of the CHARGE association was made. She had an apparently balanced whole arm translocation involving chromosomes 6 and 8. Parental karyotypes were normal. |
| نوع الوثيقة: | text |
| وصف الملف: | text/html |
| اللغة: | English |
| Relation: | http://jmg.bmj.com/cgi/content/short/28/1/54; http://dx.doi.org/10.1136/jmg.28.1.54 |
| DOI: | 10.1136/jmg.28.1.54 |
| الاتاحة: | http://jmg.bmj.com/cgi/content/short/28/1/54 https://doi.org/10.1136/jmg.28.1.54 |
| Rights: | Copyright (C) 1991, BMJ Publishing Group Ltd |
| رقم الانضمام: | edsbas.EDD72C2D |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/jmg.28.1.54 |
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