Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience
Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguo...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2019-11, Vol.179 (11), p.2178-2189 |
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| container_title | American journal of medical genetics. Part A |
| container_volume | 179 |
| creator | Yu, Alexander Turbiville, Donald Xu, Fangling Ray, Joseph W. Britt, Allison D. Lupo, Pamela J. Jain, Sunil K. Shattuck, Karen E. Robinson, Sally S. Dong, Jianli |
| description | Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype–phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients. |
| doi_str_mv | 10.1002/ajmg.a.61345 |
| format | Article |
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However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype–phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.61345</identifier><identifier>PMID: 31479204</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Central nervous system ; chromosome 22q11.2 ; chromosome microarray ; Genetic variability ; Genotypes ; genotype–phenotype correlation ; microduplication ; Patients ; Phenotypes</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am J Med Genet A</addtitle><description>Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype–phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients.</description><subject>Central nervous system</subject><subject>chromosome 22q11.2</subject><subject>chromosome microarray</subject><subject>Genetic variability</subject><subject>Genotypes</subject><subject>genotype–phenotype correlation</subject><subject>microduplication</subject><subject>Patients</subject><subject>Phenotypes</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNp90DtPwzAUBWALgWgpbMwoEgsDLX4nZosqKKAiFlixbhwHXOXVOAH670lp6cDA5Ic-Hd17EDoleEIwplewKN4mMJGEcbGHhkQIOuYRY_u7OxUDdOT9AmOGRSgP0YARHiqK-RC9zmxZtavamQDKNKjfd88PaBwkLnftKqiygNIlIRMaFM40VdrVuTPQuqr010FcBq70rWu79Qfkgf2qbeNsaewxOsgg9_Zke47Qy-3N8_RuPH-a3U_j-dgwycU4YTTkURgSIQ1JOSjJuU2MMhlnibGZtBmQiCRAITMSp4RjRYXAIEQKNpVshC42uXVTLTvrW104b2yeQ2mrzmtKI6aUlCrq6fkfuqi6ph-7VwwzqTAjqleXG9Vv631jM103roBmpQnW6971uncN-qf3np9tQ7uksOkO_xbdA74Bny63q3_DdPzwOIs3ud8QA48O</recordid><startdate>201911</startdate><enddate>201911</enddate><creator>Yu, Alexander</creator><creator>Turbiville, Donald</creator><creator>Xu, Fangling</creator><creator>Ray, Joseph W.</creator><creator>Britt, Allison D.</creator><creator>Lupo, Pamela J.</creator><creator>Jain, Sunil K.</creator><creator>Shattuck, Karen E.</creator><creator>Robinson, Sally S.</creator><creator>Dong, Jianli</creator><general>John Wiley & Sons, Inc</general><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/0000-0001-8929-6132</orcidid></search><sort><creationdate>201911</creationdate><title>Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience</title><author>Yu, Alexander ; Turbiville, Donald ; Xu, Fangling ; Ray, Joseph W. ; Britt, Allison D. ; Lupo, Pamela J. ; Jain, Sunil K. ; Shattuck, Karen E. ; Robinson, Sally S. ; Dong, Jianli</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3645-b3274877156c1d4a9644ebc9cf43bcef6efa181ba2afc60d14092550a55daed63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Central nervous system</topic><topic>chromosome 22q11.2</topic><topic>chromosome microarray</topic><topic>Genetic variability</topic><topic>Genotypes</topic><topic>genotype–phenotype correlation</topic><topic>microduplication</topic><topic>Patients</topic><topic>Phenotypes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yu, Alexander</creatorcontrib><creatorcontrib>Turbiville, Donald</creatorcontrib><creatorcontrib>Xu, Fangling</creatorcontrib><creatorcontrib>Ray, Joseph W.</creatorcontrib><creatorcontrib>Britt, Allison D.</creatorcontrib><creatorcontrib>Lupo, Pamela J.</creatorcontrib><creatorcontrib>Jain, Sunil K.</creatorcontrib><creatorcontrib>Shattuck, Karen E.</creatorcontrib><creatorcontrib>Robinson, Sally S.</creatorcontrib><creatorcontrib>Dong, Jianli</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>Yu, Alexander</au><au>Turbiville, Donald</au><au>Xu, Fangling</au><au>Ray, Joseph W.</au><au>Britt, Allison D.</au><au>Lupo, Pamela J.</au><au>Jain, Sunil K.</au><au>Shattuck, Karen E.</au><au>Robinson, Sally S.</au><au>Dong, Jianli</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2019-11</date><risdate>2019</risdate><volume>179</volume><issue>11</issue><spage>2178</spage><epage>2189</epage><pages>2178-2189</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. 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| subjects | Central nervous system chromosome 22q11.2 chromosome microarray Genetic variability Genotypes genotype–phenotype correlation microduplication Patients Phenotypes |
| title | Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience |
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