A Case of Trisomy 18 Presenting with Severe Facial Abnormality and Phocomelia
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چکیده
منابع مشابه
Mosaic Trisomy 9 in a Male Fetus with Severe Facial Abnormality and Genital Hypoplasia
Fetal trisomy 9 is a rare chromosomal abnormality, which was difficult to diagnose in the prenatal period. Here is reported a case of mosaic trisomy 9 fetus, prenatally detected by ultrasound examinations in the second trimester and confirmed by karyotyping from amniocentesis and cordocentesis. The fetus presented multiple malformations, especially facial deformity, polycystic kidney disease an...
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During a survey of thalidomide embryopathy (Kajii and Shinohara, 1963), an infant with a peculiar combination of malformations was found among the 150 cases of the syndrome. This infant exhibited phocomelia of the left arm which resembled closely that of thalidomide embryopathy, but in addition showed most of the features characteristic of the 17-18 trisomy syndrome. In the 17-18 trisomy syndro...
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A five month-old girl was admitted in Ali Asghar Children’s Hospital with a history of three months of fever, cough and dyspnea that her symptoms have exacerbated since two weeks before admission. She was the first child of the family born to consanguineous parents. She was clinically healthy in the past and had gained weight normally and undergone vaccination program with no complication unti...
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در این تحقیق دانش زبانشناسی و کاربردشناسی زبان آموزان ایرانی در سطح بالای متوسط مقایسه شد. 50 دانش آموز با سابقه آموزشی مشابه از شش آموزشگاه زبان مختلف در دو آزمون دانش زبانشناسی و آزمون دانش گفتار شناسی زبان انگلیسی شرکت کردند که سوالات هر دو تست توسط محقق تهیه شده بود. همچنین در این تحقیق کارایی کتابهای آموزشی زبان در فراهم آوردن درون داد کافی برای زبان آموزان ایرانی به عنوان هدف جانبی تحقیق ...
15 صفحه اولA case of partial trisomy 13 presenting with hyperinsulinaemic hypoglycaemia.
We report on a newborn baby with partial trisomy 13 who presented with multiple dysmorphic features and hyperinsulinaemic hypoglycaemia. Cytogenetic study on peripheral blood lymphocytes showed 47,XY,+mar in all cells analysed; fluorescent in situ hybridisation showed that the marker was solely derived from chromosome 13. The final karyotype was 47,XY,+del(13)(q14q32). Milk formula through a na...
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ژورنال
عنوان ژورنال: INTERNATIONAL JOURNAL OF HUMAN GENETICS
سال: 2012
ISSN: 0972-3757,2456-6330
DOI: 10.31901/24566330.2012/12.04.05