Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth
Many patients with maternal uniparental disomy of chromosome 7 (UPD7) have been described, mainly with intrauterine and postnatal growth retardation or with Silver–Russell syndrome. In contrast, only three cases of paternal UPD7 have been reported, all associated with recessive disorders. Here, we r...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2007-11, Vol.143A (22), p.2696-2699 |
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| container_issue | 22 |
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| container_title | American journal of medical genetics. Part A |
| container_volume | 143A |
| creator | Le Caignec, Cedric Isidor, Bertrand de Pontbriand, Ulrika David, Valerie Audrezet, Marie‐Pierre Ferec, Claude David, Albert |
| description | Many patients with maternal uniparental disomy of chromosome 7 (UPD7) have been described, mainly with intrauterine and postnatal growth retardation or with Silver–Russell syndrome. In contrast, only three cases of paternal UPD7 have been reported, all associated with recessive disorders. Here, we report on the clinical and molecular data of the third patient with paternal UPD7 and cystic fibrosis. Pre‐ and postnatal growth were normal. These findings support the hypothesis that paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth. © 2007 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.31999 |
| format | Article |
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In contrast, only three cases of paternal UPD7 have been reported, all associated with recessive disorders. Here, we report on the clinical and molecular data of the third patient with paternal UPD7 and cystic fibrosis. Pre‐ and postnatal growth were normal. These findings support the hypothesis that paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth. © 2007 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.31999</identifier><identifier>PMID: 17935233</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Biological and medical sciences ; Child, Preschool ; chromosome 7 ; Chromosomes, Human, Pair 7 ; Classical genetics, quantitative genetics, hybrids ; cystic fibrosis ; Cystic Fibrosis - genetics ; Errors of metabolism ; Female ; Fundamental and applied biological sciences. 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Part A</title><addtitle>Am J Med Genet A</addtitle><description>Many patients with maternal uniparental disomy of chromosome 7 (UPD7) have been described, mainly with intrauterine and postnatal growth retardation or with Silver–Russell syndrome. In contrast, only three cases of paternal UPD7 have been reported, all associated with recessive disorders. Here, we report on the clinical and molecular data of the third patient with paternal UPD7 and cystic fibrosis. Pre‐ and postnatal growth were normal. These findings support the hypothesis that paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth. © 2007 Wiley‐Liss, Inc.</description><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>chromosome 7</subject><subject>Chromosomes, Human, Pair 7</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>cystic fibrosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Growth</subject><subject>Human</subject><subject>Humans</subject><subject>imprinting</subject><subject>Infant</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Pedigree</subject><subject>Silver–Russell syndrome</subject><subject>Uniparental Disomy</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90M9PwyAUB3BiNP6-eTZc9OQm8MpavC2LTo3Gi54JUNhY2jKhy7L_3s4u7uaBPEg-vJf3ReiKkiElhN2rRT0bqiFQIcQBOqWcs0FWABz-3Rk_QWcpLQgBwvPRMTqhuQDOAE5R-pz7WGKjksXB4aVqbWxUhX0KZXfqDXYhYjOPoQ7d0-Icr307x2aTWm-w8zqG5NMDHuPGrrf_vW1avIw2ddU3s543IdZd11kM63Z-gY6cqpK93NVz9PX0-Dl5Hrx9TF8m47eBgRGIATVa58LpgkLpuFEZ46ZgplBOjBjlhRCQs4xBnmlgusgIUyVozol2ZVEyCufotu-7jOF7ZVMra5-MrSrV2LBKclRknFLIO3jXQ9Mtk6J1chl9reJGUiK3IcttyFLJ35A7fr3ru9K1Lfd4l2oHbnZAJaMqF1VjfNo7wShl2dZB79a-spt_h8rx6_u0H_8DSVuWkw</recordid><startdate>20071115</startdate><enddate>20071115</enddate><creator>Le Caignec, Cedric</creator><creator>Isidor, Bertrand</creator><creator>de Pontbriand, Ulrika</creator><creator>David, Valerie</creator><creator>Audrezet, Marie‐Pierre</creator><creator>Ferec, Claude</creator><creator>David, Albert</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>20071115</creationdate><title>Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth</title><author>Le Caignec, Cedric ; Isidor, Bertrand ; de Pontbriand, Ulrika ; David, Valerie ; Audrezet, Marie‐Pierre ; Ferec, Claude ; David, Albert</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3639-1cbb79fb813df5ca425c82c8af9621589937242374b32b8402ad3b550bfd8d213</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>chromosome 7</topic><topic>Chromosomes, Human, Pair 7</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>cystic fibrosis</topic><topic>Cystic Fibrosis - genetics</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Growth</topic><topic>Human</topic><topic>Humans</topic><topic>imprinting</topic><topic>Infant</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Pedigree</topic><topic>Silver–Russell syndrome</topic><topic>Uniparental Disomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Le Caignec, Cedric</creatorcontrib><creatorcontrib>Isidor, Bertrand</creatorcontrib><creatorcontrib>de Pontbriand, Ulrika</creatorcontrib><creatorcontrib>David, Valerie</creatorcontrib><creatorcontrib>Audrezet, Marie‐Pierre</creatorcontrib><creatorcontrib>Ferec, Claude</creatorcontrib><creatorcontrib>David, Albert</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. 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| subjects | Biological and medical sciences Child, Preschool chromosome 7 Chromosomes, Human, Pair 7 Classical genetics, quantitative genetics, hybrids cystic fibrosis Cystic Fibrosis - genetics Errors of metabolism Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Growth Human Humans imprinting Infant Male Medical genetics Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Pedigree Silver–Russell syndrome Uniparental Disomy |
| title | Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth |
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