Essentially pure partial trisomy (6)(p23→pter) in two brothers due to maternal t(6;17)(p23;p13.3)
- Author
- RÖTHLISBERGER, B1 ; KOTZOT, D1 ; GNEHM, H. E2 ; SCHINZEL, A1
[1] Institut für Medizinische Genetik, Universität Zürich, Zürich, Switzerland
[2] Kinderklinik, Kantonsspital Aarau, Aarau, Switzerland - Conference title
- International symposium on Mosaicism in Human Skin
- Conference name
- International symposium on Mosaicism in Human Skin (Marburg 1998-05-22)
- Source
American journal of medical genetics. = Neuropsychiatric genetics. 1999, Vol 85, Num 4, pp 389-394 ; ref : 9 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Conference Paper
- Language
- English
- Keyword (fr)
- Blépharophimosis Bras court Chromosome C6 anormal Etude cas Etude familiale Homme Microcéphalie Microstomie Phénotype Translocation chromosomique Trisomie partielle Aberration chromosomique Chromosome anormal Encéphale pathologie Génétique Maladie congénitale Malformation Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Blepharophimosis Short arm Abnormal chromosome C6 Case study Family study Human Microcephaly Microstomia Phenotype Chromosome translocation Partial trisomy Chromosomal aberration Abnormal chromosome Cerebral disorder Genetics Congenital disease Malformation Central nervous system disease Nervous system diseases
- Keyword (es)
- Blefarofimosis Brazo corto Cromosoma C6 anormal Estudio caso Estudio familiar Hombre Microcefalia Microstomía Fenotipo Translocación cromosómica Trisomía parcial Aberración cromosómica Cromosoma anormal Encéfalo patología Genética Enfermedad congénita Malformación Sistema nervosio central patología Sistema nervioso patología
- 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
- 1898352
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(19990806)85:4<389::AID-AJMG16>3.0.CO;2-A 
https://dx.doi.org/10.1002/(SICI)1096-8628(19990806)85:4<389::AID-AJMG16>3.0.CO;2-A
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