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Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)

Ivana Škrlec ; »J. J. Strossmayer« University, School of Medicine, Cytogenetics Laboratory, Osijek, Croatia
Jasenka Wagner ; »J. J. Strossmayer« University, School of Medicine, Cytogenetics Laboratory, Osijek, Croatia
Silvija Pušeljić ; »J. J. Strossmayer« University, University Hospital Center Osijek, Pediatric Clinic, Osijek, Croatia
Marija Heffer ; »J. J. Strossmayer« University, School of Medicine, Cytogenetics Laboratory, Osijek, Croatia
Feodora Stipoljev ; University of Zagreb, Universuty hospital »Sveti Duh«, Department of Obstetrics and Gynecology, Cytogenetics Laboratory, Zagreb, Croatia

Puni tekst: engleski, pdf (146 KB) str. 762-0 preuzimanja: 240* citiraj
APA 6th Edition
Škrlec, I., Wagner, J., Pušeljić, S., Heffer, M. i Stipoljev, F. (2014). Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3). Collegium antropologicum, 38 (2), 762-0. Preuzeto s https://hrcak.srce.hr/127628
MLA 8th Edition
Škrlec, Ivana, et al. "Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)." Collegium antropologicum, vol. 38, br. 2, 2014, str. 762-0. https://hrcak.srce.hr/127628. Citirano 25.10.2020.
Chicago 17th Edition
Škrlec, Ivana, Jasenka Wagner, Silvija Pušeljić, Marija Heffer i Feodora Stipoljev. "Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)." Collegium antropologicum 38, br. 2 (2014): 762-0. https://hrcak.srce.hr/127628
Harvard
Škrlec, I., et al. (2014). 'Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)', Collegium antropologicum, 38(2), str. 762-0. Preuzeto s: https://hrcak.srce.hr/127628 (Datum pristupa: 25.10.2020.)
Vancouver
Škrlec I, Wagner J, Pušeljić S, Heffer M, Stipoljev F. Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3). Collegium antropologicum [Internet]. 2014 [pristupljeno 25.10.2020.];38(2):762-0. Dostupno na: https://hrcak.srce.hr/127628
IEEE
I. Škrlec, J. Wagner, S. Pušeljić, M. Heffer i F. Stipoljev, "Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)", Collegium antropologicum, vol.38, br. 2, str. 762-0, 2014. [Online]. Dostupno na: https://hrcak.srce.hr/127628. [Citirano: 25.10.2020.]

Sažetak
Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific associated monosomy. Clinical findings of our patient were compatible with those previously reported in dup4q and del2p patients. Herein are presented the clinical and cytogenetic findings in a 4-year-old female with an unbalanced karyotype 46,XX,der(2)t(2;4)(p25.1;q31.3)pat. Clinical phenotypes of 2p;4q translocation cases are variable, because the involved breakpoints vary case-by-case. We also compare similarity of the clinical features of our proband and other patients carrying either duplication of the distal part of 4q and patients carrying a deletion of distal part of 2p as described in the literature. To our knowledge, this is the first case of partial trisomy 4q accompanied with partial monosomy 2p.

Ključne riječi
partial monosomy 2p; partial trisomy 4q; translocation; fluorescence in situ hybridization

Hrčak ID: 127628

URI
https://hrcak.srce.hr/127628

Posjeta: 373 *