Publication: Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations
Date
Date
Date
Citations
Antonarakis, S. E., Adelsberger, P. A., Petersen, M. B., Binkert, F., & Schinzel, A. A. (1990). Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. American Journal of Human Genetics, 47, 968–972.
Abstract
Abstract
Abstract
Down syndrome is rarely due to a de novo duplication of chromosome 21 [dup(21q)]. To investigate the origin of the dup(21q) and the nature of this chromosome, we used DNA polymorphisms in 10 families with Down syndrome due to de novo dup(21q). The origin of the extra chromosome 21q was maternal in six cases and paternal in four cases. Furthermore, the majority (eight of 10) of dup(21q) chromosomes were isochromosomes i(21q) (four were paternal in origin, and four were maternal in origin); however, in two of 10 families the dup(21q) ch
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
- Antonarakis, Stylianos E
- Adelsberger, Patricia A
- Petersen, Michael B
- Binkert, Franz
- Schinzel, Albert A
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
In collections
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Other Identification Number
Other Identification Number
Other Identification Number
Metrics
Downloads
Views
Citations
Antonarakis, S. E., Adelsberger, P. A., Petersen, M. B., Binkert, F., & Schinzel, A. A. (1990). Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. American Journal of Human Genetics, 47, 968–972.
