Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1782298111618580480 |
---|---|
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. |
format | Online Article Text |
id | pubmed-3880738 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT akbashalit prenataldiagnosisof4pand4qsubtelomericmicrodeletionindenovoringchromosome4 AT cinenaci prenataldiagnosisof4pand4qsubtelomericmicrodeletionindenovoringchromosome4 AT erdemoglumahmut prenataldiagnosisof4pand4qsubtelomericmicrodeletionindenovoringchromosome4 AT atayahmetengin prenataldiagnosisof4pand4qsubtelomericmicrodeletionindenovoringchromosome4 AT simsekselda prenataldiagnosisof4pand4qsubtelomericmicrodeletionindenovoringchromosome4 AT turkyilmazaysegul prenataldiagnosisof4pand4qsubtelomericmicrodeletionindenovoringchromosome4 AT fidanboymehmet prenataldiagnosisof4pand4qsubtelomericmicrodeletionindenovoringchromosome4 |