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Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations
In recent years, the introduction of novel genome analysis technologies (such as array comparative genomic hybridization) has enabled the prenatal diagnosis of various recurrent copy number variations (CNVs). Some of these CNVs have been linked to a greater susceptibility of developmental and neurop...
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| Published in: | European journal of medical genetics 2020-08, Vol.63 (8), p.103956, Article 103956 |
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| Main Authors: | , , , , , , |
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| cited_by | cdi_FETCH-LOGICAL-c401t-2d3962379a5fcb6ab5528c1955da57c287c5925bc0d0d5516c7e2fc30529d63 |
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| cites | cdi_FETCH-LOGICAL-c401t-2d3962379a5fcb6ab5528c1955da57c287c5925bc0d0d5516c7e2fc30529d63 |
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| container_issue | 8 |
| container_start_page | 103956 |
| container_title | European journal of medical genetics |
| container_volume | 63 |
| creator | Bellil, Hela Molina-Gomes, Denise Quibel, Thibaud Roy, Sophie Dard, Rodolphe Vialard, François Herve, Bérénice |
| description | In recent years, the introduction of novel genome analysis technologies (such as array comparative genomic hybridization) has enabled the prenatal diagnosis of various recurrent copy number variations (CNVs). Some of these CNVs have been linked to a greater susceptibility of developmental and neuropsychiatric disorders; for example, recurrent duplication at the 2q13 locus is associated with developmental delay, dysmorphism and intellectual disability. However, this CNV has low penetrance and variable clinical expressivity. It also can be observed in healthy controls and can be transmitted by unaffected parents, making genetic counseling especially challenging. Here, we report on the inheritance of a 2q13 duplication in an asymptomatic family; the case highlights the role of the family survey in genetic counseling with regard to novel CNVs diagnosed before birth. |
| doi_str_mv | 10.1016/j.ejmg.2020.103956 |
| format | article |
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Some of these CNVs have been linked to a greater susceptibility of developmental and neuropsychiatric disorders; for example, recurrent duplication at the 2q13 locus is associated with developmental delay, dysmorphism and intellectual disability. However, this CNV has low penetrance and variable clinical expressivity. It also can be observed in healthy controls and can be transmitted by unaffected parents, making genetic counseling especially challenging. Here, we report on the inheritance of a 2q13 duplication in an asymptomatic family; the case highlights the role of the family survey in genetic counseling with regard to novel CNVs diagnosed before birth.</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2020.103956</identifier><identifier>PMID: 32439619</identifier><language>eng</language><publisher>Netherlands: Elsevier Masson SAS</publisher><subject>2q13 microduplication ; Adult ; Asymptomatic Diseases ; Child, Preschool ; Chromosome Disorders - diagnosis ; Chromosome Disorders - genetics ; Chromosome Duplication ; Chromosomes, Human, Pair 2 - genetics ; Development Biology ; Female ; Genetic Carrier Screening - methods ; Genetic Carrier Screening - standards ; Genetic counseling ; Genetic Counseling - methods ; Genetic Counseling - standards ; Genetics ; Human genetics ; Humans ; Inheritance ; Life Sciences ; Male ; Pedigree ; Prenatal Diagnosis - methods ; Prenatal Diagnosis - standards ; Susceptibility locus ; Variant of unknown significance</subject><ispartof>European journal of medical genetics, 2020-08, Vol.63 (8), p.103956, Article 103956</ispartof><rights>2020</rights><rights>Copyright © 2020. Published by Elsevier Masson SAS.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c401t-2d3962379a5fcb6ab5528c1955da57c287c5925bc0d0d5516c7e2fc30529d63</citedby><cites>FETCH-LOGICAL-c401t-2d3962379a5fcb6ab5528c1955da57c287c5925bc0d0d5516c7e2fc30529d63</cites><orcidid>0000-0002-8450-5895 ; 0000-0002-5774-2756</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,315,786,790,891,27957,27958</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32439619$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.inrae.fr/hal-03191946$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Bellil, Hela</creatorcontrib><creatorcontrib>Molina-Gomes, Denise</creatorcontrib><creatorcontrib>Quibel, Thibaud</creatorcontrib><creatorcontrib>Roy, Sophie</creatorcontrib><creatorcontrib>Dard, Rodolphe</creatorcontrib><creatorcontrib>Vialard, François</creatorcontrib><creatorcontrib>Herve, Bérénice</creatorcontrib><title>Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations</title><title>European journal of medical genetics</title><addtitle>Eur J Med Genet</addtitle><description>In recent years, the introduction of novel genome analysis technologies (such as array comparative genomic hybridization) has enabled the prenatal diagnosis of various recurrent copy number variations (CNVs). Some of these CNVs have been linked to a greater susceptibility of developmental and neuropsychiatric disorders; for example, recurrent duplication at the 2q13 locus is associated with developmental delay, dysmorphism and intellectual disability. However, this CNV has low penetrance and variable clinical expressivity. It also can be observed in healthy controls and can be transmitted by unaffected parents, making genetic counseling especially challenging. Here, we report on the inheritance of a 2q13 duplication in an asymptomatic family; the case highlights the role of the family survey in genetic counseling with regard to novel CNVs diagnosed before birth.</description><subject>2q13 microduplication</subject><subject>Adult</subject><subject>Asymptomatic Diseases</subject><subject>Child, Preschool</subject><subject>Chromosome Disorders - diagnosis</subject><subject>Chromosome Disorders - genetics</subject><subject>Chromosome Duplication</subject><subject>Chromosomes, Human, Pair 2 - genetics</subject><subject>Development Biology</subject><subject>Female</subject><subject>Genetic Carrier Screening - methods</subject><subject>Genetic Carrier Screening - standards</subject><subject>Genetic counseling</subject><subject>Genetic Counseling - methods</subject><subject>Genetic Counseling - standards</subject><subject>Genetics</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Inheritance</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Pedigree</subject><subject>Prenatal Diagnosis - methods</subject><subject>Prenatal Diagnosis - standards</subject><subject>Susceptibility locus</subject><subject>Variant of unknown significance</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp9kM-L1DAYhoMo7rr6D3iQXD10zI9J24iXZVFXGFBw7yH98nU2Q5uMSVuYu3-4KdU9ekp4ed6X5CHkLWc7znj94bTD03jcCSbWQGpVPyPXvG3airV7_bzcm1pXjeDiirzK-cSYbLnQL8mVFHupa66vye8fCYOd7ECdt8cQs8809lT84pK6-Tx4sJOPIX-kD49IIc3gC5vigCs2lay3ox8uNM9pwQv1gR4x4OSBQpxDxsGHI42BhrjgULLzhYZ57DDRxSa_jb8mL3o7ZHzz97whP798fri7rw7fv367uz1UsGd8qoQrjxay0Vb10NW2U0q0wLVSzqoGRNuA0kJ1wBxzSvEaGhQ9SKaEdrW8Ie-31Uc7mHPyo00XE60397cHs2ZMcs31vl54YcXGQoo5J-yfCpyZVb45mVW-WeWbTX4pvdtK57kb0T1V_tkuwKcNwPLJxWMyGTwGQOcTwmRc9P_b_wNrB5Z9</recordid><startdate>20200801</startdate><enddate>20200801</enddate><creator>Bellil, Hela</creator><creator>Molina-Gomes, Denise</creator><creator>Quibel, Thibaud</creator><creator>Roy, Sophie</creator><creator>Dard, Rodolphe</creator><creator>Vialard, François</creator><creator>Herve, Bérénice</creator><general>Elsevier Masson SAS</general><general>Elsevier</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>1XC</scope><orcidid>https://orcid.org/0000-0002-8450-5895</orcidid><orcidid>https://orcid.org/0000-0002-5774-2756</orcidid></search><sort><creationdate>20200801</creationdate><title>Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations</title><author>Bellil, Hela ; 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Some of these CNVs have been linked to a greater susceptibility of developmental and neuropsychiatric disorders; for example, recurrent duplication at the 2q13 locus is associated with developmental delay, dysmorphism and intellectual disability. However, this CNV has low penetrance and variable clinical expressivity. It also can be observed in healthy controls and can be transmitted by unaffected parents, making genetic counseling especially challenging. Here, we report on the inheritance of a 2q13 duplication in an asymptomatic family; the case highlights the role of the family survey in genetic counseling with regard to novel CNVs diagnosed before birth.</abstract><cop>Netherlands</cop><pub>Elsevier Masson SAS</pub><pmid>32439619</pmid><doi>10.1016/j.ejmg.2020.103956</doi><orcidid>https://orcid.org/0000-0002-8450-5895</orcidid><orcidid>https://orcid.org/0000-0002-5774-2756</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | European journal of medical genetics, 2020-08, Vol.63 (8), p.103956, Article 103956 |
| issn | 1769-7212 1878-0849 |
| language | eng |
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| source | ScienceDirect Freedom Collection |
| subjects | 2q13 microduplication Adult Asymptomatic Diseases Child, Preschool Chromosome Disorders - diagnosis Chromosome Disorders - genetics Chromosome Duplication Chromosomes, Human, Pair 2 - genetics Development Biology Female Genetic Carrier Screening - methods Genetic Carrier Screening - standards Genetic counseling Genetic Counseling - methods Genetic Counseling - standards Genetics Human genetics Humans Inheritance Life Sciences Male Pedigree Prenatal Diagnosis - methods Prenatal Diagnosis - standards Susceptibility locus Variant of unknown significance |
| title | Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations |
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