De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma
نویسندگان
چکیده
منابع مشابه
Esophageal Metastatic Adenocarcinoma Diagnosed with Endoscopic Ultrasound
Metastasis to the esophagus from a distant primary cancer is a rare manifestation in a patient with a history of oncological disease presenting with obstructive upper gastrointestinal symptoms. Computed tomography of the thorax or esophagogastroduodenoscopy can be non-diagnostic as the disease tends to be submucosal. In such a situation, endoscopic ultrasound (EUS) with fine needle aspiration (...
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KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short...
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BACKGROUND Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by M...
متن کاملA novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
We report on a de novo 17q21.33 microdeletion, 1.8 Mb in size, detected in a patient with mild intellectual disability, growth retardation, poor weight gain, microcephaly, long face, large beaked nose, thick lower lip, micrognathia and other dysmorphic features. The deletion was detected by whole-genome genotyping BeadChip assay and involves the genomic region between 45,682,246 and 47,544,816 ...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2017
ISSN: 1757-790X
DOI: 10.1136/bcr-2016-218016