A Newborn with Panhypopituitarism and Seizures
العنوان: | A Newborn with Panhypopituitarism and Seizures |
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المؤلفون: | Ramesh Pandit, Rachit Patil, Trupti Kale |
المصدر: | Case Reports in Genetics Case Reports in Genetics, Vol 2017 (2017) |
بيانات النشر: | Hindawi Publishing Corporation, 2017. |
سنة النشر: | 2017 |
مصطلحات موضوعية: | 0301 basic medicine, Pathology, medicine.medical_specialty, lcsh:QH426-470, business.industry, Genitourinary system, MEDLINE, Case Report, General Medicine, Bioinformatics, Phenotype, 03 medical and health sciences, Patient population, lcsh:Genetics, 030104 developmental biology, Medicine, Dysmorphic facial features, Chromosome 20, Clinical phenotype, business |
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. |
اللغة: | English |
تدمد: | 2090-6552 2090-6544 |
URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dba67d1f282dd7ebdd593141b38966e3 http://europepmc.org/articles/PMC5309428 |
حقوق: | OPEN |
رقم الأكسشن: | edsair.doi.dedup.....dba67d1f282dd7ebdd593141b38966e3 |
قاعدة البيانات: | OpenAIRE |
تدمد: | 20906552 20906544 |
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