نتایج جستجو برای: dysmorphism

تعداد نتایج: 823  

Journal: :Archives of Iranian medicine 2014
Houra Loghmani Khouzani Ariana Kariminejad Gholamreza Zamani Maryam Ghalandary Bita Bozorgmehr Susan Amirsalari Faezeh Mojahedi Sayed Hassan Tonekaboni Roxana Kariminejad Hossein Najmabadi

BACKGROUND Intellectual Disabilities (ID), defined as a state of developmental deficit, result in significant limitation of intellect and poor adaptation behavior. A number of genetic factors can result in ID, such as chromosomal abnormalities, copy number variation, and single gene defect. Karyotyping is the routine method for detecting chromosomal abnormalities in patients with ID. More recen...

2017
Betül Tekin Güveli Rasim Özgür Rosti Alper Güzeltaş Elif Bahar Tuna Dilek Ataklı Serra Sencer Ensar Yekeler Hülya Kayserili Ahmet Dirican Nerses Bebek Betül Baykan Ayşen Gökyiğit Candan Gürses

Objective Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies. Methods This is a retrospective study of malformations in child...

Journal: :Journal of medical genetics 2005
J Schoumans C Ruivenkamp E Holmberg M Kyllerman B-M Anderlid M Nordenskjöld

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic technique...

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