A unique variant of Poland–Mobius syndrome with dextrocardia and a 3q23 gain
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چکیده
منابع مشابه
Dextrocardia and Hiatal Hernia in a Patient with Turner Syndrome
Turner syndrome is a sex-chromosome disorder occurring in one out of 2500 female births and characterized by growth retardation, gonadal dysgenesis and cardiovascular anomalies. The 45, XO karyotype is the most frequent type of this disease. Herein, we report on a 6-year-old girl with Turner syndrome and 45, XO karyotype presenting with short stature. She had dextrocardia and hiatal hernia. To ...
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15 صفحه اولMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
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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 case report of variant scimitar syndrome
Background: Scimitar syndrome (SS) or congenital pulmonary venolobar syndrome is a rare anomaly, most commonly including partial pulmonary venous drainage into the inferior vena cava, right lung hypoplasia, dextroposition of the heart, and anomalous systemic arterial supply from aorta or one of its branches to the right lung. Case report: A 10-day-old female infant was referred to our hospital...
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ژورنال
عنوان ژورنال: Journal of Perinatology
سال: 2013
ISSN: 0743-8346,1476-5543
DOI: 10.1038/jp.2012.92