Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
Joint Authors
Cine, Naci
Fidanboy, Mehmet
Turkyilmaz, Aysegul
Erdemoglu, Mahmut
Simsek, Selda
Akbas, Halit
Atay, Ahmet Engin
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-12-19
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract 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.
American Psychological Association (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
Modern Language Association (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
American Medical Association (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
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-457156