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Fetal cystic hygroma associated with terminal 2p25.1 duplication and terminal 3p25.3 deletion: Cytogenetic, fluorescent in situ hybridization and microarray familial characterization of two different chromosomal structural rearrangements

F Stipoljev

F Stipoljev

  • Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh,”Zagreb, Croatia
  • Faculty of Medicine, Josip Juraj Strossmayer University of OsijekOsijek, Croatia
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Stipoljev, F
, 
M Barbalic

M Barbalic

Genom LtdZagreb, Croatia
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Barbalic, M
, 
M Logara

M Logara

Genom LtdZagreb, Croatia
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Logara, M
, 
A Vicic

A Vicic

Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical Hospital “Sveti Duh,”Zagreb, Croatia
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Vicic, A
, 
M Vulic

M Vulic

Department of Gynecology and Obstetrics, Split University Hospital Centre, School of Medicine, University of SplitSplit, Croatia
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Vulic, M
, 
S Zekic Tomas

S Zekic Tomas

  • Pathology Department, University Hospital Centre SplitSplit, Croatia
  • School of Medicine, University of SplitSplit, Croatia
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Zekic Tomas, S
 e 
R Gjergja Juraski

R Gjergja Juraski

  • Faculty of Medicine, Josip Juraj Strossmayer University of OsijekOsijek, Croatia
  • Srebrnjak Children’s HospitalZagreb, Croatia
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Gjergja Juraski, R
  
23 mar 2021
Fetal cystic hygroma associated with terminal 2p25.1 duplication and terminal 3p25.3 deletion: Cytogenetic, fluorescent in situ hybridization and microarray familial characterization of two different chromosomal structural rearrangements's Cover Image
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Categoria dell'articolo: Case report
Pubblicato online: 23 mar 2021
Pagine: 79 - 86
DOI: https://doi.org/10.2478/bjmg-2020-0023
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© 2020 Stipoljev F, Barbalic M, Logara M, Vicic A, Vulic M, Zekic Tomas S, Gjergja Juraski R, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

(A) Partial karyotype with accompanied ideograms showing balanced translocation (2;3)(p25.1;p25.3) and paracentric inversion of chromosome 3 in the father. (B) Metaphase FISH on paternal peripheral blood lymphocytes using whole-chromosome painting probe for chromosome 3 (green label) and chromosome 3 specific centromere probe (red label). The arrow indicates derivative chromosome 2p resulting from 2p;3p reciprocal translocation. (C) Array comprehensive genomic hybridization analysis of cultured amniotic fluid cells: detailed view of 2(p25.1-p25.3) gain. (D) The 3(p25.3-p26.3) deletion (image from Cytoreport generated by Cytogenomics software; Agilent Technologies).
(A) Partial karyotype with accompanied ideograms showing balanced translocation (2;3)(p25.1;p25.3) and paracentric inversion of chromosome 3 in the father. (B) Metaphase FISH on paternal peripheral blood lymphocytes using whole-chromosome painting probe for chromosome 3 (green label) and chromosome 3 specific centromere probe (red label). The arrow indicates derivative chromosome 2p resulting from 2p;3p reciprocal translocation. (C) Array comprehensive genomic hybridization analysis of cultured amniotic fluid cells: detailed view of 2(p25.1-p25.3) gain. (D) The 3(p25.3-p26.3) deletion (image from Cytoreport generated by Cytogenomics software; Agilent Technologies).
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Inglese
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