Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling
Abstract Background Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose o...
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2018-03-01
|
Series: | Molecular Cytogenetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13039-018-0372-6 |
id |
doaj-c2f6926b75584a169aec0e6ed77b3a2d |
---|---|
record_format |
Article |
spelling |
doaj-c2f6926b75584a169aec0e6ed77b3a2d2020-11-25T00:02:20ZengBMCMolecular Cytogenetics1755-81662018-03-011111910.1186/s13039-018-0372-6Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counselingMargaret E. Armstrong0David D. Weaver1Melissa D. Lah2Gail H. Vance3Benjamin J. Landis4Stephanie M. Ware5Benjamin M. Helm6Department of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of MedicineDepartment of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of MedicineDepartment of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of MedicineDepartment of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of MedicineDepartment of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of MedicineDepartment of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of MedicineDepartment of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of MedicineAbstract Background Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation We report on an adult male with a 22 Mb duplication of chromosome 5p13.3-q11.2 resulting from a small SMC5. The patient has a history of prenatal polyhydramnios, dysmorphic features, respiratory issues, talipes equinovarus, hypotonia, developmental delay, and autistic features. The patient also has novel features of aortic dilation, pectus excavatum, kyphoscoliosis, and skin striae, suggestive of a connective tissue disorder. Despite these features he did not meet clinical diagnostic criteria for a well-characterized connective tissue disorder. Additional molecular genetic testing for syndromic and non-syndromic aortic aneurysms was negative. Conclusions Many of the patient’s features are consistent with individuals reported with 5p13 duplication syndrome and similar cases of SMC5, including polyhydramnios, macrocephaly, dolichocephaly, pre-auricular pits, arachnodactyly, respiratory problems, and developmental delays. It is unclear if the patient’s unique features of aortic dilation, pectus excavatum, kyphoscoliosis, and skin striae could be novel features of the SMC5 given its rarity and the few well-phenotyped adults in the literature. This report reviews the literature and provides additional phenotypic information to define the genotype-phenotype correlation of SMC5 and 5p13 duplication syndrome.http://link.springer.com/article/10.1186/s13039-018-0372-6Supernumerary marker chromosomeChromosome 5Genotype-phenotype correlationAortic aneurysm5p13 duplication |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Margaret E. Armstrong David D. Weaver Melissa D. Lah Gail H. Vance Benjamin J. Landis Stephanie M. Ware Benjamin M. Helm |
spellingShingle |
Margaret E. Armstrong David D. Weaver Melissa D. Lah Gail H. Vance Benjamin J. Landis Stephanie M. Ware Benjamin M. Helm Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling Molecular Cytogenetics Supernumerary marker chromosome Chromosome 5 Genotype-phenotype correlation Aortic aneurysm 5p13 duplication |
author_facet |
Margaret E. Armstrong David D. Weaver Melissa D. Lah Gail H. Vance Benjamin J. Landis Stephanie M. Ware Benjamin M. Helm |
author_sort |
Margaret E. Armstrong |
title |
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling |
title_short |
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling |
title_full |
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling |
title_fullStr |
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling |
title_full_unstemmed |
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling |
title_sort |
novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2018-03-01 |
description |
Abstract Background Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11.2 duplication arising from a SMC5 and compare and contrast the phenotype with cases in the literature. Case presentation We report on an adult male with a 22 Mb duplication of chromosome 5p13.3-q11.2 resulting from a small SMC5. The patient has a history of prenatal polyhydramnios, dysmorphic features, respiratory issues, talipes equinovarus, hypotonia, developmental delay, and autistic features. The patient also has novel features of aortic dilation, pectus excavatum, kyphoscoliosis, and skin striae, suggestive of a connective tissue disorder. Despite these features he did not meet clinical diagnostic criteria for a well-characterized connective tissue disorder. Additional molecular genetic testing for syndromic and non-syndromic aortic aneurysms was negative. Conclusions Many of the patient’s features are consistent with individuals reported with 5p13 duplication syndrome and similar cases of SMC5, including polyhydramnios, macrocephaly, dolichocephaly, pre-auricular pits, arachnodactyly, respiratory problems, and developmental delays. It is unclear if the patient’s unique features of aortic dilation, pectus excavatum, kyphoscoliosis, and skin striae could be novel features of the SMC5 given its rarity and the few well-phenotyped adults in the literature. This report reviews the literature and provides additional phenotypic information to define the genotype-phenotype correlation of SMC5 and 5p13 duplication syndrome. |
topic |
Supernumerary marker chromosome Chromosome 5 Genotype-phenotype correlation Aortic aneurysm 5p13 duplication |
url |
http://link.springer.com/article/10.1186/s13039-018-0372-6 |
work_keys_str_mv |
AT margaretearmstrong novelphenotypeof5p133q112duplicationresultingfromsupernumerarymarkerchromosome5implicationsformanagementandgeneticcounseling AT daviddweaver novelphenotypeof5p133q112duplicationresultingfromsupernumerarymarkerchromosome5implicationsformanagementandgeneticcounseling AT melissadlah novelphenotypeof5p133q112duplicationresultingfromsupernumerarymarkerchromosome5implicationsformanagementandgeneticcounseling AT gailhvance novelphenotypeof5p133q112duplicationresultingfromsupernumerarymarkerchromosome5implicationsformanagementandgeneticcounseling AT benjaminjlandis novelphenotypeof5p133q112duplicationresultingfromsupernumerarymarkerchromosome5implicationsformanagementandgeneticcounseling AT stephaniemware novelphenotypeof5p133q112duplicationresultingfromsupernumerarymarkerchromosome5implicationsformanagementandgeneticcounseling AT benjaminmhelm novelphenotypeof5p133q112duplicationresultingfromsupernumerarymarkerchromosome5implicationsformanagementandgeneticcounseling |
_version_ |
1725438306745843712 |