The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Carolina S. Fonseca; Adriano Bonaldi; Simone A. S. Fonseca; Paulo A. Otto; Fernando Kok; Mads Bak; Niels Tommerup; Angela M. Vianna-Morgante

doi:10.1186/s13039-015-0205-9

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Ana Carolina S. Fonseca, Adriano Bonaldi, Simone A. S. Fonseca, Paulo A. Otto, Fernando Kok, Mads Bak, Niels Tommerup, Angela M. Vianna-Morgante

3 Citations (Scopus)

Original language	English
Article number	106
Journal	Molecular Cytogenetics
Volume	8
Pages (from-to)	1-10
Number of pages	10
ISSN	1755-8166
DOIs	https://doi.org/10.1186/s13039-015-0205-9
Publication status	Published - 30 Dec 2015

Keywords

Familial karyotypically balanced translocation
5q23.2-23.3 duplication
LMNB1 duplication
2p14 deletion
CEP68
RAB1A and ACTR2 deletion
2p14p15 microdeletion syndrome

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Fonseca, A. C. S., Bonaldi, A., Fonseca, S. A. S., Otto, P. A., Kok, F., Bak, M., Tommerup, N., & Vianna-Morgante, A. M. (2015). The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation. Molecular Cytogenetics, 8, 1-10. Article 106. https://doi.org/10.1186/s13039-015-0205-9

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation. / Fonseca, Ana Carolina S.; Bonaldi, Adriano; Fonseca, Simone A. S. et al.
In: Molecular Cytogenetics, Vol. 8, 106, 30.12.2015, p. 1-10.

Research output: Contribution to journal › Journal article › Research › peer-review

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AU - Otto, Paulo A.

AU - Kok, Fernando

AU - Bak, Mads

AU - Tommerup, Niels

AU - Vianna-Morgante, Angela M.

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KW - CEP68

KW - RAB1A and ACTR2 deletion

KW - 2p14p15 microdeletion syndrome

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JF - Molecular Cytogenetics

M1 - 106

ER -

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Keywords

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