Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16
- Author
- WANG, J.-C. C1 ; MAMUNES, P1 ; KOU, S.-Y1 ; SCHMIDT, J1 ; RONG MAO2 ; HSU, W.-T2
[1] Alfigen/The Genetics Institute, Pasadena, California, United States
[2] Department of Pediatrics, Rush Medical College, Chicago, Illinois, United States - Source
American journal of medical genetics. = Neuropsychiatric genetics. 1998, Vol 80, Num 4, pp 418-422 ; ref : 24 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Centromère Chromosome C10 anormal Chromosome E16 anormal Chromosome E16 Disomie uniparentale Dysmorphie faciale Déterminisme génétique Etude cas Etude familiale Mosaïcisme Mère Nourrisson Pathogénie Phénotype Placenta Point cassure Translocation chromosomique Trisomie Aberration chromosomique Aneuploïdie Chromosome anormal Homme Stomatologie
- Keyword (en)
- Centromere Abnormal chromosome C10 Abnormal chromosome E16 Chromosome E16 Uniparental disomy Dysmorphic facies Genetic determinism Case study Family study Mosaicism Mother Infant Pathogenesis Phenotype Placenta Breakpoint Chromosome translocation Trisomy Chromosomal aberration Aneuploidy Abnormal chromosome Human Stomatology
- Keyword (es)
- Centrómero Cromosoma C10 anormal Cromosoma E16 anormal Cromosoma E16 Disomia uniparental Dismorfia facial Determinismo genético Estudio caso Estudio familiar Mosaicismo Madre Lactante Patogenia Fenotipo Placenta Punto ruptura Translocación cromosómica Trisomía Aberración cromosómica Aneuploidía Cromosoma anormal Hombre Estomatología
- 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
- 1607594
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(19981204)80:4<418::AID-AJMG22>3.0.CO;2-C 
https://dx.doi.org/10.1002/(SICI)1096-8628(19981204)80:4<418::AID-AJMG22>3.0.CO;2-C
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