Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature
The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia, developmental delay, facial dysmorphism, micrognathia, kyphoscoliosis, and buried penis. Chromosomal microarray revealed an interstitial 327 ...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2017-07, Vol.173 (7), p.1970-1974 |
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| container_end_page | 1974 |
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| container_issue | 7 |
| container_start_page | 1970 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 173 |
| creator | Travan, Laura Naviglio, Samuele De Cunto, Angela Pellegrin, Andrea Pecile, Vanna Spinelli, Alessandro Mauro Cappellani, Stefania Faletra, Flavio |
| description | The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia, developmental delay, facial dysmorphism, micrognathia, kyphoscoliosis, and buried penis. Chromosomal microarray revealed an interstitial 327 kb de novo microdeletion in the 19q13.32 region comprising eight genes (ARGHAP35, NPAS1, TMEM160, ZC3H4, SAE1, BBC3, MIR3190, and MIR3191). Previously reported cases of microdeletions in the 19q13.32 region were reviewed and compared to our patient, highlighting the common features of a possible 19q13.32 microdeletion syndrome. |
| doi_str_mv | 10.1002/ajmg.a.38256 |
| format | Article |
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In this paper we report a patient who presented with hypotonia, developmental delay, facial dysmorphism, micrognathia, kyphoscoliosis, and buried penis. Chromosomal microarray revealed an interstitial 327 kb de novo microdeletion in the 19q13.32 region comprising eight genes (ARGHAP35, NPAS1, TMEM160, ZC3H4, SAE1, BBC3, MIR3190, and MIR3191). Previously reported cases of microdeletions in the 19q13.32 region were reviewed and compared to our patient, highlighting the common features of a possible 19q13.32 microdeletion syndrome.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.38256</identifier><identifier>PMID: 28411391</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>19q13.32 ; copy number variation ; developmental delay ; Kyphosis ; Literature reviews ; microdeletion ; Penis ; Scoliosis ; SNPs array</subject><ispartof>American journal of medical genetics. 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Previously reported cases of microdeletions in the 19q13.32 region were reviewed and compared to our patient, highlighting the common features of a possible 19q13.32 microdeletion syndrome.</description><subject>19q13.32</subject><subject>copy number variation</subject><subject>developmental delay</subject><subject>Kyphosis</subject><subject>Literature reviews</subject><subject>microdeletion</subject><subject>Penis</subject><subject>Scoliosis</subject><subject>SNPs array</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNp9kEtPWzEQRi1UxCNlx7qy1A0LEvyOb3dRVEIRqFXVri3fm3Hj6L6wfZvm3-OQwKILVjOa7-jT6CB0ScmEEsJu7Lr5M7ETrplUR-iMSsnGQnP-4W1n8hSdx7gmhBM5VSfolGlBKS_oGXI_VtB2adv7CsO_PkCMvmtx5zAtniifcIYbX4VuCTWknMQv-Cf0XUg7xOIWNri3yUObsG2XOMBfn085SyvAtU8QbBoCfETHztYRLg5zhH7ffv01vxs_fF98m88exhVXQo2hWApHnLaV0wUrC8EcVboqSsqUoI6VlrhSWC2kkk5RVREx1VIJ4pwsp4ryEbra9_ahexogJtP4WEFd2xa6IRqqtVaaMc4y-vk_dN0Noc3fGVqQQjHJCc_U9Z7KDmIM4EwffGPD1lBidv7Nzr-x5sV_xj8dSoeygeUb_Co8A2IPbHwN23fLzOz-cTHb9z4DIU-QJw</recordid><startdate>201707</startdate><enddate>201707</enddate><creator>Travan, Laura</creator><creator>Naviglio, Samuele</creator><creator>De Cunto, Angela</creator><creator>Pellegrin, Andrea</creator><creator>Pecile, Vanna</creator><creator>Spinelli, Alessandro Mauro</creator><creator>Cappellani, Stefania</creator><creator>Faletra, Flavio</creator><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-1915-9965</orcidid></search><sort><creationdate>201707</creationdate><title>Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature</title><author>Travan, Laura ; Naviglio, Samuele ; De Cunto, Angela ; Pellegrin, Andrea ; Pecile, Vanna ; Spinelli, Alessandro Mauro ; Cappellani, Stefania ; Faletra, Flavio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3646-e9d4f0f8acf892b942f168c9b12641f2ba0fb4a84565f616c04785640ff5b7613</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>19q13.32</topic><topic>copy number variation</topic><topic>developmental delay</topic><topic>Kyphosis</topic><topic>Literature reviews</topic><topic>microdeletion</topic><topic>Penis</topic><topic>Scoliosis</topic><topic>SNPs array</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Travan, Laura</creatorcontrib><creatorcontrib>Naviglio, Samuele</creatorcontrib><creatorcontrib>De Cunto, Angela</creatorcontrib><creatorcontrib>Pellegrin, Andrea</creatorcontrib><creatorcontrib>Pecile, Vanna</creatorcontrib><creatorcontrib>Spinelli, Alessandro Mauro</creatorcontrib><creatorcontrib>Cappellani, Stefania</creatorcontrib><creatorcontrib>Faletra, Flavio</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Travan, Laura</au><au>Naviglio, Samuele</au><au>De Cunto, Angela</au><au>Pellegrin, Andrea</au><au>Pecile, Vanna</au><au>Spinelli, Alessandro Mauro</au><au>Cappellani, Stefania</au><au>Faletra, Flavio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2017-07</date><risdate>2017</risdate><volume>173</volume><issue>7</issue><spage>1970</spage><epage>1974</epage><pages>1970-1974</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia, developmental delay, facial dysmorphism, micrognathia, kyphoscoliosis, and buried penis. Chromosomal microarray revealed an interstitial 327 kb de novo microdeletion in the 19q13.32 region comprising eight genes (ARGHAP35, NPAS1, TMEM160, ZC3H4, SAE1, BBC3, MIR3190, and MIR3191). Previously reported cases of microdeletions in the 19q13.32 region were reviewed and compared to our patient, highlighting the common features of a possible 19q13.32 microdeletion syndrome.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>28411391</pmid><doi>10.1002/ajmg.a.38256</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-1915-9965</orcidid></addata></record> |
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| source | Wiley Online Library Journals Frontfile Complete |
| subjects | 19q13.32 copy number variation developmental delay Kyphosis Literature reviews microdeletion Penis Scoliosis SNPs array |
| title | Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature |
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