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Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

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 reveal...

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Autores principales: Akbas, Halit, Cine, Naci, Erdemoglu, Mahmut, Atay, Ahmet Engin, Simsek, Selda, Turkyilmaz, Aysegul, Fidanboy, Mehmet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880738/
https://www.ncbi.nlm.nih.gov/pubmed/24455347
http://dx.doi.org/10.1155/2013/248050
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author Akbas, Halit
Cine, Naci
Erdemoglu, Mahmut
Atay, Ahmet Engin
Simsek, Selda
Turkyilmaz, Aysegul
Fidanboy, Mehmet
author_facet Akbas, Halit
Cine, Naci
Erdemoglu, Mahmut
Atay, Ahmet Engin
Simsek, Selda
Turkyilmaz, Aysegul
Fidanboy, Mehmet
author_sort Akbas, Halit
collection PubMed
description 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.
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spelling pubmed-38807382014-01-19 Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4 Akbas, Halit Cine, Naci Erdemoglu, Mahmut Atay, Ahmet Engin Simsek, Selda Turkyilmaz, Aysegul Fidanboy, Mehmet Case Rep Obstet Gynecol Case Report 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. Hindawi Publishing Corporation 2013 2013-12-19 /pmc/articles/PMC3880738/ /pubmed/24455347 http://dx.doi.org/10.1155/2013/248050 Text en Copyright © 2013 Halit Akbas et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Akbas, Halit
Cine, Naci
Erdemoglu, Mahmut
Atay, Ahmet Engin
Simsek, Selda
Turkyilmaz, Aysegul
Fidanboy, Mehmet
Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
title Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
title_full Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
title_fullStr Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
title_full_unstemmed Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
title_short Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
title_sort prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880738/
https://www.ncbi.nlm.nih.gov/pubmed/24455347
http://dx.doi.org/10.1155/2013/248050
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