Possible new variant of Nijmegen breakage syndrome

Author

DER KALOUSTIAN, V. M^{1 2 7} ; KLEIJER, W⁹ ; EYDOUX, P^{2 6 7} ; BOOTH, A^{1 2 7} ; AUERBACH, A. D^{1 10} ; MAZER, B^{2 3} ; ELLIOTT, A. M⁷ ; ABISH, S⁴ ; USHER, R⁸ ; WATTERS, G⁵ ; VEKEMANS, M^{2 6 7}
[1] F. Clarke Fraser Clinical Genetics Unit, Department of Pathology, Montreal Children's Hospital and McGill Univesity, Montréal, Canada
[2] Division of Medical Genetics, Department of Pathology, Montreal Children's Hospital and McGill University, Montréal, Canada
[3] Division of Allergy and Clinical Immunology, Department of Pathology, Montreal Children's Hospital and McGill University, Montreal, Canada
[4] Division of Oncology, Department of Pathology, Montreal Children's Hospital and McGill University, Montreal, Canada
[5] Division of Neurology, Department of Pathology, Montreal Children's Hospital and McGill University, Montreal, Canada
[6] Department of Pediatrics, Division of Cytogenetics, Department of Pathology, Montreal Children's Hospital and McGill University, Montreal, Canada
[7] Department of Human Genetics, McGill University, Montreal, Canada
[8] Division of Neonatology, Department of Pediatrics, Royal Victoria Hospital and McGill University, Montreal, Quebec, Canada
[9] Department of Clinical Genetics, Erasmus University, Rotterdam, Netherlands
[10] Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York, United States

Source

American journal of medical genetics. = Neuropsychiatric genetics. 1996, Vol 65, Num 1, pp 21-26 ; ref : 34 ref

CODEN

AJMGDA

ISSN

0148-7299

Scientific domain

Genetics

Publisher

Wiley-Liss, New York, NY

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Cassure chromosomique Cytogénétique Enfant Etude cas Exploration Fragilité chromosomique Phénotype Résistance rayonnement Synthèse DNA Variant génétique Nijmegen syndrome Aberration chromosomique Chromosome anormal Génétique Homme

Keyword (en)

Chromosome break Cytogenetics Child Case study Exploration Chromosome fragility Phenotype Radiation resistance DNA synthesis Genetic variant Chromosomal aberration Abnormal chromosome Genetics Human

Keyword (es)

Ruptura cromosómica Citogenética Niño Estudio caso Exploración Fragilidad cromosómica Fenotipo Resistencia radiación Síntesis ADN Variante genética Aberración cromosómica Cromosoma anormal Genética Hombre

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23C Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)

Discipline

Medical genetics

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

3232563

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