Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region
- Author
- MEINS, Moritz1 ; HAGH, Javad Karimzad1 ; GERRESHEIM, Fritz1 ; EINHOFF, Elisabeth2 ; OLSCHEWSKI, Heidi3 ; STREHL, Henning2 ; EPPLEN, Jörg T1
[1] Department of Human Genetics, Ruhr-University Bochum, Germany
[2] Neuropaediatrics, Department of Paediatrics and Adolescent Medicine, Klinikum Dortmund, Germany
[3] General Paediatrics, Department of Paediatrics and Adolescent Medicine, Klinikum Dortmund, Germany - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2005, Vol 132A, Num 1, pp 84-89, 6 p ; ref : 30 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- NLGN1 cytogenetic analysis dup(3q) minimal region dup(3q) syndrome gene disruption mental retardation
- Keyword (fr)
- Carte génétique De novo Duplication chromosomique Etude cas Génétique Homme Interstitiel Région critique Syndrome Aberration chromosomique Chromosome anormal
- Keyword (en)
- Genetic mapping De novo Chromosome duplication Case study Genetics Human Interstitial Critical region Syndrome Chromosomal aberration Abnormal chromosome
- Keyword (es)
- Mapa genético De novo Duplicación cromosómica Estudio caso Genética Hombre Intersticial Región crítica Síndrome Aberración cromosómica Cromosoma anormal
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16541482
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
10.1002/ajmg.a.30384 
https://dx.doi.org/10.1002/ajmg.a.30384
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