Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism
- Author
- JUN WANG1 ; REDDY, K. S2 ; ENDI WANG1 ; HALDERMAN, L3 ; MORGAN, B. L. G3 ; LACHMAN, R. S4 5 ; LIN, H. J4 ; CORNFORD, M. E1
[1] Department of Pathology, Harbor-UCLA Medical Center, UCLA School of Medicine, Torrance, California, United States
[2] Quest Diagnostics, San Juan Capistrano, California, United States
[3] Department of Obstetrics and Gynecology, Harbor-UCLA Medical Center, UCLA School of Medicine, Torrance, California, United States
[4] Department of Pediatrics, Harbor-UCLA Medical Center, UCLA School of Medicine, Torrance, California, United States
[5] Department of Radiology, Harbor-UCLA Medical Center, UCLA School of Medicine, Torrance, California, United States - Source
American journal of medical genetics. = Neuropsychiatric genetics. 1999, Vol 82, Num 4, pp 312-317 ; ref : 18 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Agénésie Caractère létal Chromosome A2 anormal Déterminisme génétique Encéphale Etude cas Fissure congénitale Foetus Homme Malformation Membre supérieur Palais Pathogénie Phénotype Pouce Rein polykystique Revue bibliographique Triplication intrachromosomique Triplication Aberration chromosomique Appareil urinaire pathologie Cavité buccale pathologie Chromosome anormal Encéphale pathologie Kyste Main pathologie Maladie congénitale Maladie héréditaire Rein pathologie Stomatologie Syndrome complexe Système nerveux central pathologie Système nerveux pathologie Système ostéoarticulaire pathologie Tumeur bénigne
- Keyword (en)
- Agenesis Lethal character Abnormal chromosome A2 Genetic determinism Brain (vertebrata) Case study Cleft Fetus Human Malformation Upper limb Palate Pathogenesis Phenotype Thumb Polycystic kidney Bibliographic review Intrachromosomal triplication Chromosomal aberration Urinary system disease Oral cavity disease Abnormal chromosome Cerebral disorder Cyst Disease of the hand Congenital disease Genetic disease Kidney disease Stomatology Complex syndrome Central nervous system disease Nervous system diseases Diseases of the osteoarticular system Benign neoplasm
- Keyword (es)
- Agenesia Carácter letal Cromosoma A2 anormal Determinismo genético Encéfalo Estudio caso Fisura congenital Feto Hombre Malformación Miembro superior Paladar Patogenia Fenotipo Pulgar Riñón poliquístico Revista bibliográfica Aberración cromosómica Aparato urinario patología Cavidad bucal patología Cromosoma anormal Encéfalo patología Quiste Mano patología Enfermedad congénita Enfermedad hereditaria Riñón patología Estomatología Síndrome complejo Sistema nervosio central patología Sistema nervioso patología Sistema osteoarticular patología Tumor benigno
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1682962
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1002/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9 
https://dx.doi.org/10.1002/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:63:\"10.1002\/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"82\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"312\";s:8:\"\u0000*\u0000epage\";s:3:\"317\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"JUN WANG\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:11:\"REDDY, K. S\";i:1;s:9:\"ENDI WANG\";i:2;s:12:\"HALDERMAN, L\";i:3;s:15:\"MORGAN, B. L. G\";i:4;s:13:\"LACHMAN, R. S\";i:5;s:9:\"LIN, H. J\";i:6;s:14:\"CORNFORD, M. E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:63:\"10.1002\/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"82\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"312\";s:8:\"\u0000*\u0000epage\";s:3:\"317\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"JUN WANG\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:11:\"REDDY, K. S\";i:1;s:9:\"ENDI WANG\";i:2;s:12:\"HALDERMAN, L\";i:3;s:15:\"MORGAN, B. L. G\";i:4;s:13:\"LACHMAN, R. S\";i:5;s:9:\"LIN, H. J\";i:6;s:14:\"CORNFORD, M. E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:63:\"10.1002\/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:63:\"10.1002\/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"82\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"312\";s:8:\"\u0000*\u0000epage\";s:3:\"317\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"JUN WANG\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:11:\"REDDY, K. S\";i:1;s:9:\"ENDI WANG\";i:2;s:12:\"HALDERMAN, L\";i:3;s:15:\"MORGAN, B. L. G\";i:4;s:13:\"LACHMAN, R. S\";i:5;s:9:\"LIN, H. J\";i:6;s:14:\"CORNFORD, M. E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:63:\"10.1002\/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"82\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"312\";s:8:\"\u0000*\u0000epage\";s:3:\"317\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"JUN WANG\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:11:\"REDDY, K. S\";i:1;s:9:\"ENDI WANG\";i:2;s:12:\"HALDERMAN, L\";i:3;s:15:\"MORGAN, B. L. G\";i:4;s:13:\"LACHMAN, R. S\";i:5;s:9:\"LIN, H. J\";i:6;s:14:\"CORNFORD, M. E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:63:\"10.1002\/(SICI)1096-8628(19990212)82:4<312::AID-AJMG7>3.0.CO;2-9\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:9:\"\u0000*\u0000jtitle\";s:36:\"American journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1999\";s:9:\"\u0000*\u0000volume\";s:2:\"82\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"312\";s:8:\"\u0000*\u0000epage\";s:3:\"317\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0148-7299\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"JUN WANG\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:11:\"REDDY, K. S\";i:1;s:9:\"ENDI WANG\";i:2;s:12:\"HALDERMAN, L\";i:3;s:15:\"MORGAN, B. L. G\";i:4;s:13:\"LACHMAN, R. S\";i:5;s:9:\"LIN, H. J\";i:6;s:14:\"CORNFORD, M. E\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJMGDA\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:145:\"Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant : Case report and review of triplications and their possible mechanism\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:10:\"Wiley-Liss\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
