دورية أكاديمية
A Newborn with Panhypopituitarism and Seizures
| العنوان: | A Newborn with Panhypopituitarism and Seizures |
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| المؤلفون: | Trupti Kale, Rachit Patil, Ramesh Pandit |
| المصدر: | Case Reports in Genetics, Vol 2017 (2017) |
| بيانات النشر: | Wiley, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | Genetics, QH426-470 |
| الوصف: | Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2090-6544 2090-6552 |
| Relation: | https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552 |
| DOI: | 10.1155/2017/4364216 |
| URL الوصول: | https://doaj.org/article/440e83f206294ad49522dec6578ea41d |
| رقم الأكسشن: | edsdoj.440e83f206294ad49522dec6578ea41d |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20906544 20906552 |
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| DOI: | 10.1155/2017/4364216 |