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Scientific paper - Case study
Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)
Collegium antropologicum, 38 (2014), 2; 759-762. urn:nbn:hr:239:289807
Škrlec, Ivana; Wagner, Jasenka; Pušeljić, Silvija; Heffer, Marija; Stipoljev, Feodora

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Škrlec, I., Wagner, J., Pušeljić, S., Heffer, M. & 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), 759-762. Retrieved from https://urn.nsk.hr/urn:nbn:hr:239:289807

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, no. 2, 2014, pp. 759-762. https://urn.nsk.hr/urn:nbn:hr:239:289807

Škrlec, Ivana, Jasenka Wagner, Silvija Pušeljić, Marija Heffer and Feodora Stipoljev. "Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)." Collegium antropologicum 38, no. 2 (2014): 759-762. https://urn.nsk.hr/urn:nbn:hr:239:289807

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), pp. 759-762. Available at: https://urn.nsk.hr/urn:nbn:hr:239:289807 (Accessed 17 November 2024)

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 [cited 2024 November 17];38(2):759-762. Available at: https://urn.nsk.hr/urn:nbn:hr:239:289807

I. Škrlec, J. Wagner, S. Pušeljić, M. Heffer and F. Stipoljev, "Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)", Collegium antropologicum, vol. 38, no. 2, pp. 759-762, 2014. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:239:289807. [Accessed: 17 November 2024]

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Metadata
Title (english)Partial Monosomy 2p and Partial Trisomy 4q due to Paternal Translocation t(2;4)(p25.1;q31.3)
Title (croatian)Djelomična monosomija 2p i djelomična trisomija 4p uslijed očeve translokacije t(2;4)(p25.1;q31.3)
AuthorIvana Škrlec
MBZ: 366802
AuthorJasenka Wagner
MBZ: 268083
AuthorSilvija Pušeljić
MBZ: 263190
AuthorMarija Heffer
MBZ: 178985
AuthorFeodora Stipoljev
Author's institution(Clinical hospital center Osijek)
Author's institutionJosip Juraj Strossmayer University of Osijek
Faculty of Medicine Osijek
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Clinical Cytology
Abstract (english)
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.
Abstract (croatian)
Klinička slika pacijenta s djelomičnom aneuploidijom ovisi o veličini kromosomskog segmenta uključenog u translokaciju. Monosomija 2p često je dio složenih sindroma u potomaka nositelja uravnotežene recipročne translokacije. Pacijenti sa sindromom dup4q imaju promjenjivu kliničku sliku koja ovisi o veličini dupliciranog segmenta 4q i specifičnoj pridruženoj monosomiji. Klinička slika nače pacijentice podudara se s kliničkom slikom več objavljenih pacijenata s dup4q i del2p. Prikazani su klinički i citogenetički nalazi četvrogodišnje djevojčice sa nebalasiranim kariotipom 46, XX,der(2)t(2;4)(p25.1;q31.3)pat. Fenotipovi slučajeva translokacije 2p;4q su promjenjivi jer točke loma variraju od pacijenta do pacijenta. Usporedili smo sličnost kliničkih nalaza naše pacijentice s ostalim pacijentima opisanim u literaturi koji imaju ili duplikaciju distalnog dijela 4q ili deleciju distalnog dijela 2p. Ovo je prva pacijentica s djelomičnom trisomijom 4q povezana s djelomičnom monosomijom 2p.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleCollegium antropologicum
Numberingvol. 38, no. 2, pp. 759-762
p-ISSN0350-6134
URN:NBNurn:nbn:hr:239:289807
Publication2014
Document URLhttp://www.collantropol.hr/antropo/article/view/833/758
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2020-03-31 07:52:39