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The Identification of Microdeletion Syndromes and Other Chromosome Abnormalities : Cytogenetic Methods of the Past, New Technologies for the Future

Author
SHAFFER, Lisa G1 2 ; BEJJANI, Bassem A1 3 ; TORCHIA, Beth1 ; KIRKPATRICK, Susan1 ; COPPINGER, Justine1 ; BALLIF, Blake C1
[1] Signature Genomic Laboratories, LLC, Spokane, WA, United States
[2] Washington State University, United States
[3] Molecular Diagnostics Laboratory at Sacred Heart Medical Center, Spokane, WA, United States
Issue title
Subtelomeric microdeletion Syndromes
Author (monograph)
SPINNER, Nancy B (Editor)1 2 ; KRANTZ, Ian D (Editor)1 2
[1] University of Pennsylvania, United States
[2] Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia PA, United States
Source

American journal of medical genetics. Part C, Seminars in medical genetics. 2007, Vol 145, Num 4, pp 335-345, 11 p ; ref : 1 p.1/2

ISSN
1552-4868
Scientific domain
Genetics
Publisher
Wiley-Liss, Hoboken, NJ
Publication country
United States
Document type
Article
Language
English
Author keyword
chromosome banding comparative genomic hybridization fluorescence in situ hybridization microarray microdeletion molecular cytogenetics translocation
Keyword (fr)
Aberration chromosomique Bande chromosomique Cytogénétique Hybridation génomique comparative Hybridation in situ fluorescence Identification Méthode Syndrome Technique Technologie Translocation chromosomique Microdélétion Chromosome anormal
Keyword (en)
Chromosomal aberration Chromosome banding Cytogenetics Comparative genomic hybridization Fluorescence in situ hybridization Identification Method Syndrome Technique Technology Chromosome translocation Microdeletion Abnormal chromosome
Keyword (es)
Aberración cromosómica Banda cromosómica Citogenética Hibridación genómica comparativa Hibridación in situ fluorescencia Identificación Método Síndrome Técnica Tecnología Translocación cromosómica Microdeletion Cromosoma anormal
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
19889109

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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