Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
نویسندگان
چکیده
منابع مشابه
a comparison of teachers and supervisors, with respect to teacher efficacy and reflection
supervisors play an undeniable role in training teachers, before starting their professional experience by preparing them, at the initial years of their teaching by checking their work within the proper framework, and later on during their teaching by assessing their progress. but surprisingly, exploring their attributes, professional demands, and qualifications has remained a neglected theme i...
15 صفحه اولA Rare Case of Eosinophilic Cholecystitis Presenting in a Patient with Thalassemia Intermedia; a Case Report
Eosinophilic cholecystitis is a rare inflammatory condition encountered in surgical cholecystectomy specimens. In terms of histopathology, it is defined by transmural infiltration of eosinophils composing more than 90% of leukocytes. We here report a case of 19-year-old male admitted with thalassemia intermedia and with severe left upper quadrant pain. The patient underwent open splenectomy and...
متن کامل4-Hydroxybutyric Aciduria as a Rare Presentation of Global Developmental Delay in Children: Case Report of Two Different Patients
Succinic semialdehyde dehydrogenase (SSADH) deficiency or 4-Hydroxybutyric Aciduria is an autosomal recessive inherited disorder of amma-aminobutyric acid (GABA) degradation. It is characterized by developmental delay, infantile-onset hypotonia, cognitive impairment language deficit, and ataxia. Epilepsy, aggression, Hyperkinetic behavior, hallucinations, and sleep disturbances have been descri...
متن کاملvalidation of a revised logical-mathematical intelligence scale and exploring its relationship with english language proficiency
نظریه هوش چندگانه قسمتهای متفاوت هوش بشری را مورد بررسی قرار می دهد که با شناخت آن شخص به درک بهتری از توانایی های خود میرسد و در نتیجه سعی در استفاده از آن جهت یادگیری بهتر میکند. همچنین با شناخت استعداد دانش آموزان، فرایند یادگیری بهتر میشود. هدف از انجام دادن این تحقیق بررسی رابطه بین هوش ریاضی و استعداد یادگیری زبان انگلیسی میباشد. برای انجام این تحقیق از پرسشنامه هوش ریاضی که توسط شیرر در ...
A de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report
The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2009
ISSN: 1755-8166
DOI: 10.1186/1755-8166-2-2