Duplication of 7p21.2→pter due to maternal 7p;21q translocation : Implications for critical segment assignment in the 7p duplication syndrome
- Author
- TAO CAI1 ; PING YU2 ; TAGLE, D. A2 ; JIAHUI XIA1
[1] National Laboratory of Medical Genetics, Hunan Medical University, China
[2] Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States - Source
American journal of medical genetics. = Neuropsychiatric genetics. 1999, Vol 86, Num 4, pp 305-311 ; ref : 1 p.1/4
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Arriération mentale Chromosome C7 anormal Crâne pathologie Duplication chromosomique Dysmorphie faciale Déterminisme génétique Enfant Etude cas Hypertélorisme Hypotonie musculaire Origine maternelle Pathogénie Phénotype Trouble développement Aberration chromosomique Chromosome anormal Déficience intellectuelle Homme Muscle strié pathologie Oeil pathologie Stomatologie Syndrome complexe Système nerveux pathologie Système ostéoarticulaire pathologie Trouble neurologique Trouble tonus
- Keyword (en)
- Mental retardation Abnormal chromosome C7 Skull disease Chromosome duplication Dysmorphic facies Genetic determinism Child Case study Hypertelorism Muscular hypotonia Maternal origin Pathogenesis Phenotype Developmental disorder Chromosomal aberration Abnormal chromosome Intellectual deficiency Human Striated muscle disease Eye disease Stomatology Complex syndrome Nervous system diseases Diseases of the osteoarticular system Neurological disorder Muscle tonus alteration
- Keyword (es)
- Retraso mental Cromosoma C7 anormal Cráneo patología Duplicación cromosómica Dismorfia facial Determinismo genético Niño Estudio caso Hipertelorismo Hipotonía muscular Origen materno Patogenia Fenotipo Trastorno desarrollo Aberración cromosómica Cromosoma anormal Deficiencia intelectual Hombre Músculo estriado patología Ojo patología Estomatología Síndrome complejo Sistema nervioso patología Sistema osteoarticular patología Trastorno neurológico Trastorno tono muscular
- 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
- 1966113
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/(SICI)1096-8628(19991008)86:4<305::AID-AJMG1>3.0.CO;2-B 
https://dx.doi.org/10.1002/(SICI)1096-8628(19991008)86:4<305::AID-AJMG1>3.0.CO;2-B
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