Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
المؤلفون المشاركون
Cine, Naci
Fidanboy, Mehmet
Turkyilmaz, Aysegul
Erdemoglu, Mahmut
Simsek, Selda
Akbas, Halit
Atay, Ahmet Engin
المصدر
Case Reports in Obstetrics and Gynecology
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-12-19
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis.
A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy.
Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4.
Both maternal and paternal karyotypes were normal.
Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH).
However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study.
These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb).
In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination.
According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region.
Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Akbas, Halit& Cine, Naci& Erdemoglu, Mahmut& Atay, Ahmet Engin& Simsek, Selda& Turkyilmaz, Aysegul…[et al.]. 2013. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4. Case Reports in Obstetrics and Gynecology،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-457156
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Akbas, Halit…[et al.]. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4. Case Reports in Obstetrics and Gynecology No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-457156
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Akbas, Halit& Cine, Naci& Erdemoglu, Mahmut& Atay, Ahmet Engin& Simsek, Selda& Turkyilmaz, Aysegul…[et al.]. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4. Case Reports in Obstetrics and Gynecology. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-457156
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-457156
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر