Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies
Joint Authors
Balabanski, L.
Ivanov, S.
Vazharova, Radoslava
Vragaleva, Svetlana
Dimitrova, Violeta
Malinov, Maxim
Toncheva, D.
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-08-23
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract 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.
American Psychological Association (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
Modern Language Association (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
American Medical Association (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
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1101479