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Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype
BACKGROUND: Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either gains or losses or equally large genomic regions, but the affected person is not or only m...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943926/ https://www.ncbi.nlm.nih.gov/pubmed/35331298 http://dx.doi.org/10.1186/s13039-022-00590-5 |
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author | Han, Miaomiao Wei, Lei Liu, Fang Gao, Xia |
author_facet | Han, Miaomiao Wei, Lei Liu, Fang Gao, Xia |
author_sort | Han, Miaomiao |
collection | PubMed |
description | BACKGROUND: Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either gains or losses or equally large genomic regions, but the affected person is not or only minimally clinically affected. The knowledge of such UBCAs is imperative also in chromosomal microarray analysis (CMA) or noninvasive prenatal testing (NIPT). CASE PRESENTATION: A maternally inherited del(18)(p11.32p11.31) was identified in a over two generations in a Chinese family with normal phenotype. The affected region encompasses 19 genes, among which TGIF1 is expressed in fetal and adult nervous system. TGIF1 deletions and /or mutations have been seen in cases with holoprosencephaly but also non-affected individuals, suggesting incomplete penetrance and variable expressivity. CONCLUSIONS: Deletions in the terminal region of chromosome 18 short arm have been reported previously in clinically healthy persons. Here a further family with an UBCA in 18p11.3 is added to the literature, suggesting a careful genetic counselling in comparable, especially prenatal cases. |
format | Online Article Text |
id | pubmed-8943926 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-89439262022-03-25 Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype Han, Miaomiao Wei, Lei Liu, Fang Gao, Xia Mol Cytogenet Case Report BACKGROUND: Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either gains or losses or equally large genomic regions, but the affected person is not or only minimally clinically affected. The knowledge of such UBCAs is imperative also in chromosomal microarray analysis (CMA) or noninvasive prenatal testing (NIPT). CASE PRESENTATION: A maternally inherited del(18)(p11.32p11.31) was identified in a over two generations in a Chinese family with normal phenotype. The affected region encompasses 19 genes, among which TGIF1 is expressed in fetal and adult nervous system. TGIF1 deletions and /or mutations have been seen in cases with holoprosencephaly but also non-affected individuals, suggesting incomplete penetrance and variable expressivity. CONCLUSIONS: Deletions in the terminal region of chromosome 18 short arm have been reported previously in clinically healthy persons. Here a further family with an UBCA in 18p11.3 is added to the literature, suggesting a careful genetic counselling in comparable, especially prenatal cases. BioMed Central 2022-03-24 /pmc/articles/PMC8943926/ /pubmed/35331298 http://dx.doi.org/10.1186/s13039-022-00590-5 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Han, Miaomiao Wei, Lei Liu, Fang Gao, Xia Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype |
title | Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype |
title_full | Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype |
title_fullStr | Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype |
title_full_unstemmed | Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype |
title_short | Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype |
title_sort | familial microdeletion 18p11.32 to 18p11.31 in a chinese family with normal phenotype |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943926/ https://www.ncbi.nlm.nih.gov/pubmed/35331298 http://dx.doi.org/10.1186/s13039-022-00590-5 |
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