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Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies
المؤلفون المشاركون
Balabanski, L.
Ivanov, S.
Vazharova, Radoslava
Vragaleva, Svetlana
Dimitrova, Violeta
Malinov, Maxim
Toncheva, D.
المصدر
Case Reports in Obstetrics and Gynecology
العدد
المجلد 2016، العدد 2016 (31 ديسمبر/كانون الأول 2016)، ص ص. 1-4، 4ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2016-08-23
دولة النشر
مصر
عدد الصفحات
4
التخصصات الرئيسية
الملخص EN
Congenital anomalies affect 1% to 2% of the newborns.
The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%.
Certain anomalies occur in isolation, whereas others are associated with systemic conditions.
The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician.
The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease.
The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.).
The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri.
Nuchal fold thickness was 5 mm and there was a single umbilical artery.
After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome.
A new hypomorphic mutation in FANCD2 gene was found to underlie this fetal anomaly.
The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Vazharova, Radoslava& Vragaleva, Svetlana& Dimitrova, Violeta& Ivanov, S.& Balabanski, L.& Malinov, Maxim…[et al.]. 2016. Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies. Case Reports in Obstetrics and Gynecology،Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1101479
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Vazharova, Radoslava…[et al.]. Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies. Case Reports in Obstetrics and Gynecology No. 2016 (2016), pp.1-4.
https://search.emarefa.net/detail/BIM-1101479
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Vazharova, Radoslava& Vragaleva, Svetlana& Dimitrova, Violeta& Ivanov, S.& Balabanski, L.& Malinov, Maxim…[et al.]. Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies. Case Reports in Obstetrics and Gynecology. 2016. Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1101479
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1101479
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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