Mosaic UPD(7q)mat in a patient with silver Russell syndrome
Abstract Background Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of...
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BMC
2017-10-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | http://link.springer.com/article/10.1186/s13039-017-0337-1 |
| _version_ | 1811283013934252032 |
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| author | Jiasun Su Jin Wang Xin Fan Chunyun Fu ShuJie Zhang Yue Zhang Zailong Qin Hongdou Li Jingsi Luo Chuan Li Tingting Jiang Yiping Shen |
| author_facet | Jiasun Su Jin Wang Xin Fan Chunyun Fu ShuJie Zhang Yue Zhang Zailong Qin Hongdou Li Jingsi Luo Chuan Li Tingting Jiang Yiping Shen |
| author_sort | Jiasun Su |
| collection | DOAJ |
| description | Abstract Background Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). Mosaic maternal segmental UPD of 7q (UPD(7q)mat) is very rare, had only been described in one case before. Case presentation We reported a second case of mosaic segmental UPD involving 7q. The patient presented with dysmorphic features including thin and short stature, triangular face, moderate protruding forehead, relative macrocephaly, fifth toe clinodactyly and irregular teeth, meeting the clinical diagnosed criteria of SRS. This case indicated that ~ 80% of mosaic UPD(7q)mat lead to the manifestation of main phenotypes of Silver-Russell syndrome. Conclusions Our case support the notion that there are genes control postnatal growth on long arm of chromosome 7 and indicate that ~ 80% of UPD(7q)mat mosaicism level was contributed to the SRS phenotype. |
| first_indexed | 2024-04-13T02:03:57Z |
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| id | doaj.art-6eafd0d7efd44ae88fdc28a4613b63bc |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-13T02:03:57Z |
| publishDate | 2017-10-01 |
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| series | Molecular Cytogenetics |
| spelling | doaj.art-6eafd0d7efd44ae88fdc28a4613b63bc2022-12-22T03:07:32ZengBMCMolecular Cytogenetics1755-81662017-10-011011710.1186/s13039-017-0337-1Mosaic UPD(7q)mat in a patient with silver Russell syndromeJiasun Su0Jin Wang1Xin Fan2Chunyun Fu3ShuJie Zhang4Yue Zhang5Zailong Qin6Hongdou Li7Jingsi Luo8Chuan Li9Tingting Jiang10Yiping Shen11Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteDepartment of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control InstituteAbstract Background Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). Mosaic maternal segmental UPD of 7q (UPD(7q)mat) is very rare, had only been described in one case before. Case presentation We reported a second case of mosaic segmental UPD involving 7q. The patient presented with dysmorphic features including thin and short stature, triangular face, moderate protruding forehead, relative macrocephaly, fifth toe clinodactyly and irregular teeth, meeting the clinical diagnosed criteria of SRS. This case indicated that ~ 80% of mosaic UPD(7q)mat lead to the manifestation of main phenotypes of Silver-Russell syndrome. Conclusions Our case support the notion that there are genes control postnatal growth on long arm of chromosome 7 and indicate that ~ 80% of UPD(7q)mat mosaicism level was contributed to the SRS phenotype.http://link.springer.com/article/10.1186/s13039-017-0337-1Silver-Russell syndromeMaternal uniparental disomyMosaicism |
| spellingShingle | Jiasun Su Jin Wang Xin Fan Chunyun Fu ShuJie Zhang Yue Zhang Zailong Qin Hongdou Li Jingsi Luo Chuan Li Tingting Jiang Yiping Shen Mosaic UPD(7q)mat in a patient with silver Russell syndrome Molecular Cytogenetics Silver-Russell syndrome Maternal uniparental disomy Mosaicism |
| title | Mosaic UPD(7q)mat in a patient with silver Russell syndrome |
| title_full | Mosaic UPD(7q)mat in a patient with silver Russell syndrome |
| title_fullStr | Mosaic UPD(7q)mat in a patient with silver Russell syndrome |
| title_full_unstemmed | Mosaic UPD(7q)mat in a patient with silver Russell syndrome |
| title_short | Mosaic UPD(7q)mat in a patient with silver Russell syndrome |
| title_sort | mosaic upd 7q mat in a patient with silver russell syndrome |
| topic | Silver-Russell syndrome Maternal uniparental disomy Mosaicism |
| url | http://link.springer.com/article/10.1186/s13039-017-0337-1 |
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