A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature
- Author
- HANEMAAIJER, Nicolien1 ; DIJKHUIZEN, Trijnie1 ; HAADSMA, Maaike1 ; BOEVE, Margot2 ; BOON, Maartje3 ; HORDIJK, Roel1 ; KOK, Klaas1 ; SIKKEMA-RADDATZ, Birgit1 ; VAN RAVENSWAAIJ-ARTS, Conny M. A1
[1] Department of Genetics, CB50, University Medical Centre Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, Netherlands
[2] Department of Paediatrics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands
[3] Department of Paediatric Neurology, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands - Issue title
- Emerging Microdeletion and Microduplication Syndromes
- Author (monograph)
- VAN RAVENSWAAIJ-ARTS, Conny M. A (Editor)1 ; KLEEFSTRA, Tjitske (Editor)2
[1] Department of Genetics, University Medical Centre Groningen, University of Groningen, P.O. Box 30001, 9700 RB Groningen, Netherlands
[2] Department of Human Genetics, Radboud University Nijmegen, Medical Centre, Nijmegen, Netherlands - Source
European journal of medical genetics. 2009, Vol 52, Num 2-3, pp 116-119, 4 p ; ref : 7 ref
- Publisher
- Elsevier, Amsterdam
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Author keyword
- Array CGH Coloboma Developmental delay Duplication 1p34.1 Laryngomalacia Microcephaly POMGNT1
- Keyword (fr)
- Colobome Duplication chromosomique Génétique Homme Laryngomalacie Malade Microcéphalie Revue bibliographique Trouble du développement Aberration chromosomique Chromosome anormal Maladie congénitale Malformation Pathologie ORL Pathologie de l'encéphale Pathologie de l'oeil Pathologie du larynx Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Coloboma Chromosome duplication Genetics Human Laryngomalacia Patient Microcephaly Bibliographic review Developmental disorder Chromosomal aberration Abnormal chromosome Congenital disease Malformation ENT disease Cerebral disorder Eye disease Larynx disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Coloboma Duplicación cromosómica Genética Hombre Laringomalacia Enfermo Microcefalia Revista bibliográfica Trastorno desarrollo Aberración cromosómica Cromosoma anormal Enfermedad congénita Malformación ORL patología Encéfalo patología Ojo patología Laringe patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09A Malformations of the eye
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Neurology Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21749883
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
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DOI
10.1016/j.ejmg.2009.01.005 
https://dx.doi.org/10.1016/j.ejmg.2009.01.005
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