Subtelomeric deletions of chromosome 6p : Molecular and cytogenetic characterization of three new cases with phenotypic overlap with ritscher-schinzel (3C) syndrome
- Author
- DESCIPIO, Cheryl1 ; SCHNEIDER, Lori1 ; MENON, Ammini1 ; GESCHWINDT, Ryan2 ; CHUDLEY, Albert E5 ; SARAIVA, Jorge6 ; SCHINZEL, Albert A. G. L7 ; GUICHET, Agnes8 ; DOBYNS, William E9 ; TOUTAIN, Annick8 ; SPINNER, Nancy B1 10 ; KRANTZ, Ian D1 ; YOUNG, Terri L1 2 ; WASSERMAN, Nora1 ; YAEGER, Dinah1 ; FENGMIN LU1 ; WHEELER, Patricia G3 ; WILLIAMS, Mare S4 ; BASON, Lynn1 ; JUKOFSKY, Lori1
[1] Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States
[2] Division of Ophthalmology, The Children's Hospital of Philadelphia, and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States
[3] Division of Genetics and Metabolism, Nemours Children's Clinic, Orlando, Florida, United States
[4] Gundersen Lutheran Medical Center, La Crosse, Wisconsin, United States
[5] Section of Genetics and Metabolism, Children's Hospital and University of Manitoba, Winnipeg, Manitoba, United States
[6] Serviço de Genética Médica, Hospital Pediàtrico de Coimbra, Coimbra, Portugal
[7] Institute of Medical Genetics, University of Zürich, Zurich, Switzerland
[8] Centre Hospitalier Universitaire de Tours, France
[9] Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States
[10] Division of Clinical Labs, The Children's Hospital of Philadelphia, and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2005, Vol 134A, Num 1, pp 3-11, 9 p ; ref : 17 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- 3C syndrome 6p25 subtelomeric deletion Dandy-Walker malformation FOXC1 FOXF2 FOXQ1 Ritscher-Schinzel syndrome anterior chamber congenital heart defect
- Keyword (fr)
- Caractérisation Carte génétique Chromosome C6 Cytogénétique Délétion Etude cas Génétique Homme Phénotype Syndrome
- Keyword (en)
- Characterization Genetic mapping Chromosome C6 Cytogenetics Deletion Case study Genetics Human Phenotype Syndrome
- Keyword (es)
- Caracterización Mapa genético Cromosoma C6 Citogenética Deleción Estudio caso Genética Hombre Fenotipo Síndrome
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- 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
- 16653621
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.30573 
https://dx.doi.org/10.1002/ajmg.a.30573
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