Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature
We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families stu...
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| Veröffentlicht in: | Human genetics 1995-07, Vol.96 (1), p.9-13 |
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| container_title | Human genetics |
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| creator | DEMCZUK, S LEVY, A AURIAS, A AUBRY, M CROQUETTE, M.-F PHILIP, N PRIEUR, M SAUER, U BOUVAGNET, P ROULEAU, G. A THOMAS, G |
| description | We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families studied and the deleted chromosome was of maternal origin in 16 cases (72%). When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a chi 2 of 8 with a probability level lower than 0.01. These data, and review of the literature on familial DGS/VCFS and isolated conotruncal cardiopathies suggest that there is a strong tendency for the 22q11.2 deletions to be of maternal origin. |
| doi_str_mv | 10.1007/BF00214179 |
| format | Article |
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When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a chi 2 of 8 with a probability level lower than 0.01. These data, and review of the literature on familial DGS/VCFS and isolated conotruncal cardiopathies suggest that there is a strong tendency for the 22q11.2 deletions to be of maternal origin.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00214179</identifier><identifier>PMID: 7607662</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Biological and medical sciences ; Chromosome Deletion ; Chromosomes, Human, Pair 22 - genetics ; DiGeorge Syndrome - genetics ; Face - abnormalities ; Female ; Heart Defects, Congenital - genetics ; Humans ; Immunodeficiencies ; Immunodeficiencies. Immunoglobulinopathies ; Immunopathology ; Male ; Medical sciences ; Molecular Sequence Data ; Polymerase Chain Reaction ; Repetitive Sequences, Nucleic Acid</subject><ispartof>Human genetics, 1995-07, Vol.96 (1), p.9-13</ispartof><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c342t-195bcd8b86410d0c0b6c965accac7a58ea19bd4f21488bd938941bcee07dcc5b3</citedby><cites>FETCH-LOGICAL-c342t-195bcd8b86410d0c0b6c965accac7a58ea19bd4f21488bd938941bcee07dcc5b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3590487$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7607662$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DEMCZUK, S</creatorcontrib><creatorcontrib>LEVY, A</creatorcontrib><creatorcontrib>AURIAS, A</creatorcontrib><creatorcontrib>AUBRY, M</creatorcontrib><creatorcontrib>CROQUETTE, M.-F</creatorcontrib><creatorcontrib>PHILIP, N</creatorcontrib><creatorcontrib>PRIEUR, M</creatorcontrib><creatorcontrib>SAUER, U</creatorcontrib><creatorcontrib>BOUVAGNET, P</creatorcontrib><creatorcontrib>ROULEAU, G. A</creatorcontrib><creatorcontrib>THOMAS, G</creatorcontrib><title>Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families studied and the deleted chromosome was of maternal origin in 16 cases (72%). When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a chi 2 of 8 with a probability level lower than 0.01. These data, and review of the literature on familial DGS/VCFS and isolated conotruncal cardiopathies suggest that there is a strong tendency for the 22q11.2 deletions to be of maternal origin.</description><subject>Biological and medical sciences</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 22 - genetics</subject><subject>DiGeorge Syndrome - genetics</subject><subject>Face - abnormalities</subject><subject>Female</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Humans</subject><subject>Immunodeficiencies</subject><subject>Immunodeficiencies. Immunoglobulinopathies</subject><subject>Immunopathology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Polymerase Chain Reaction</subject><subject>Repetitive Sequences, Nucleic Acid</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU-LFDEQxYMo67h68S7kIB6E3q0k3UnnuP8VFryo1yadVK-R7mRM0up8Bz_0ZtxhPQoFRdX78QrqEfKawQkDUKfn1wCctUzpJ2TDWsEbxkE8JRsQLTRSMfWcvMj5OwDrNO-OyJGSoKTkG_Ln6rfFnGmcqMMZi4_h77CYgimYmcbk73ygtco3pJf-BmO6w9OvOMfGmuR8bCZjfSXzLrgUF8wn9Izmsrrd3ohzGvAX3ZriMZRMTXA04U9fd1Xde86-njJlTfiSPJvMnPHVoR-TL9dXny8-NLefbj5enN02VrS8NEx3o3X92MuWgQMLo7RadsZaY5XpejRMj66d6kv6fnRa9Lplo0UE5aztRnFM3j34blP8sWIuw-KzxXk2AeOaB6WElsDgvyCTWjPNeQXfP4A2xZwTTsM2-cWk3cBg2Gc0_Muowm8Oruu4oHtED6FU_e1BN9maeUomWJ8fMdFpaHsl7gHRKZmq</recordid><startdate>19950701</startdate><enddate>19950701</enddate><creator>DEMCZUK, S</creator><creator>LEVY, A</creator><creator>AURIAS, A</creator><creator>AUBRY, M</creator><creator>CROQUETTE, M.-F</creator><creator>PHILIP, N</creator><creator>PRIEUR, M</creator><creator>SAUER, U</creator><creator>BOUVAGNET, P</creator><creator>ROULEAU, G. 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A</au><au>THOMAS, G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1995-07-01</date><risdate>1995</risdate><volume>96</volume><issue>1</issue><spage>9</spage><epage>13</epage><pages>9-13</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families studied and the deleted chromosome was of maternal origin in 16 cases (72%). When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a chi 2 of 8 with a probability level lower than 0.01. These data, and review of the literature on familial DGS/VCFS and isolated conotruncal cardiopathies suggest that there is a strong tendency for the 22q11.2 deletions to be of maternal origin.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>7607662</pmid><doi>10.1007/BF00214179</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | Human genetics, 1995-07, Vol.96 (1), p.9-13 |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Biological and medical sciences Chromosome Deletion Chromosomes, Human, Pair 22 - genetics DiGeorge Syndrome - genetics Face - abnormalities Female Heart Defects, Congenital - genetics Humans Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies Immunopathology Male Medical sciences Molecular Sequence Data Polymerase Chain Reaction Repetitive Sequences, Nucleic Acid |
| title | Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature |
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