Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes Article Swipe
D. Marcus‐Soekarman
,
Guus Hamers
,
S. Velzeboer
,
J.G. Nijhuis
,
W.H. Loneus
,
J. Herbergs
,
Christine de Die‐Smulders
,
C. T. R. M. Schrander‐Stumpel
,
J.J.M. Engelen
·
YOU?
·
· 2003
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.20403
YOU?
·
· 2003
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.20403
We report on monozygotic (MZ) twins with a de novo mos 46,XX,der(15)t(11;15)(p12;p11.2)/46,XX karyotype varying in different tissues. The clinical presentation and findings at the cytogenetic level are described. One of the infants had definite minor anomalies at birth, also found in other cases of trisomy of 11p resembling the Beckwith–Wiedemann syndrome. Theoretical backgrounds regarding the string of events leading to the cytogenetic findings in these twins and the various factors that might have contributed to the dissimilarities in phenotype between these twins are discussed. © 2003 Wiley‐Liss, Inc.
Related Topics
Concepts
Karyotype
Trisomy
Phenotype
Genetics
Biology
Beckwith–Wiedemann syndrome
Monozygotic twin
Presentation (obstetrics)
Clinical phenotype
Chromosome
Medicine
Obstetrics
Gene
Gene expression
DNA methylation
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.a.20403
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.20403
- OA Status
- bronze
- Cited By
- 18
- References
- 12
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2169024143
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2169024143Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/ajmg.a.20403Digital Object Identifier
- Title
-
Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2003Year of publication
- Publication date
-
2003-08-07Full publication date if available
- Authors
-
D. Marcus‐Soekarman, Guus Hamers, S. Velzeboer, J.G. Nijhuis, W.H. Loneus, J. Herbergs, Christine de Die‐Smulders, C. T. R. M. Schrander‐Stumpel, J.J.M. EngelenList of authors in order
- Landing page
-
https://doi.org/10.1002/ajmg.a.20403Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.20403Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.20403Direct OA link when available
- Concepts
-
Karyotype, Trisomy, Phenotype, Genetics, Biology, Beckwith–Wiedemann syndrome, Monozygotic twin, Presentation (obstetrics), Clinical phenotype, Chromosome, Medicine, Obstetrics, Gene, Gene expression, DNA methylationTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
18Total citation count in OpenAlex
- Citations by year (recent)
-
2021: 1, 2019: 1, 2017: 1, 2013: 4Per-year citation counts (last 5 years)
- References (count)
-
12Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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