A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmon...

Descripción completa

Detalles Bibliográficos
Autores principales: Kang, Jeong-Eun, Park, Mi Young, Cheon, Chong Kun, Lee, Hyoung Doo, Hwang, Sang-Hyun, Yi, Jongyoun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3255494/
https://www.ncbi.nlm.nih.gov/pubmed/22259786
http://dx.doi.org/10.3343/alm.2012.32.1.91
_version_ 1782221011294355456
author Kang, Jeong-Eun
Park, Mi Young
Cheon, Chong Kun
Lee, Hyoung Doo
Hwang, Sang-Hyun
Yi, Jongyoun
author_facet Kang, Jeong-Eun
Park, Mi Young
Cheon, Chong Kun
Lee, Hyoung Doo
Hwang, Sang-Hyun
Yi, Jongyoun
author_sort Kang, Jeong-Eun
collection PubMed
description Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).
format Online
Article
Text
id pubmed-3255494
institution National Center for Biotechnology Information
language English
publishDate 2012
publisher The Korean Society for Laboratory Medicine
record_format MEDLINE/PubMed
spelling pubmed-32554942012-01-18 A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion Kang, Jeong-Eun Park, Mi Young Cheon, Chong Kun Lee, Hyoung Doo Hwang, Sang-Hyun Yi, Jongyoun Ann Lab Med Case Report Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p). The Korean Society for Laboratory Medicine 2012-01 2011-12-20 /pmc/articles/PMC3255494/ /pubmed/22259786 http://dx.doi.org/10.3343/alm.2012.32.1.91 Text en © The Korean Society for Laboratory Medicine http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kang, Jeong-Eun
Park, Mi Young
Cheon, Chong Kun
Lee, Hyoung Doo
Hwang, Sang-Hyun
Yi, Jongyoun
A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
title A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
title_full A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
title_fullStr A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
title_full_unstemmed A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
title_short A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
title_sort case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3255494/
https://www.ncbi.nlm.nih.gov/pubmed/22259786
http://dx.doi.org/10.3343/alm.2012.32.1.91
work_keys_str_mv AT kangjeongeun acaseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT parkmiyoung acaseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT cheonchongkun acaseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT leehyoungdoo acaseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT hwangsanghyun acaseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT yijongyoun acaseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT kangjeongeun caseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT parkmiyoung caseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT cheonchongkun caseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT leehyoungdoo caseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT hwangsanghyun caseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion
AT yijongyoun caseofpartialtrisomy20presultingfrommeioticrecombinationofamaternalpericentricinversion

Ejemplares similares