Association of 20P11.2 Deletion With Growth Hormone Deficiency and Hypothyroidism

الموضوعات

طب

الملخص

There are few reports describing proximal deletions of the short arm of chromosome 20 (20p), making it difficult to predict the likely consequences of this deletion. Previously, two reports have described a mosaic maternally inherited 20p deletion; the first case has described a proximal 20p11.2 deletion mainly associated with phenotypes such as panhypopituitarism and dysmorphic facial features. The second case has reported Alagille syndrome with a submicroscopic 20p deletion (including the JAG1 gene).Another report describing a de novo 20p11.22-p11.23 haploinsufficiency, have described a phenotype of autism, craniofacial dysmorphism, and Hirschsprung disease. Herein, we report the smallest reported de novo proximal 20p deletion in 9-years old boy with a phenotype including; growth hormone deficiency, hypothyroidism, craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, gastrointestinal system anomalies and immune system impairment. The only other similar report to our patient involving the deletion of only Foxa2 gene showed phenotypes associated with biliary atresia, malrotation and interrupted inferior vena cava. Our patient provides further evidence expanding the spectrum of 20p11.2 deletion to include hypothyroidism and growth hormone deficiency.

روابط وملفات

التعريف والنوع

رقم الوثيقة

f6156ec1-d49d-4ffe-84b5-0e4f9a42dcac

رقم العقد

0

نوع الوسائط

Crawler

نوع المحتوى

الرسائل العلمية

صيغة المصدر

رسائل ماجيستير

نوع الملف

pdf text

أسماء الملفات

f6156ec1-d49d-4ffe-84b5-0e4f9a42dcac_1.pdf

بيانات النشر

ألقاب المؤلفين

[{"name_ar":"Henning Horn","title_ar":"اشراف","title_en":"Supervision"},{"name_ar":"Idris Omer Mohammed","title_ar":"اعداد","title_en":"Preparation"},{"name_ar":"Khalid Hussain","title_ar":"اشراف","title_en":"Supervision"}]

اللغة

English

المصدر والدورية

اسم المصدر

Association of 20P11.2 Deletion With Growth Hormone Deficiency and Hypothyroidism

المحتوى والصفحات

عدد الصفحات

0

إشراف وإعداد

الإشراف

Henning Horn, Khalid Hussain

الإعداد

Idris Omer Mohammed

الاقتباسات الببليوغرافية