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Scientific paper - Case study
De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p
Collegium antropologicum, 38 (2014), 1; 319-323. urn:nbn:hr:239:067523
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). De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p. Collegium antropologicum, 38. (1), 319-323. Retrieved from https://urn.nsk.hr/urn:nbn:hr:239:067523

Škrlec, Ivana, et al. "De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p." Collegium antropologicum, vol. 38, no. 1, 2014, pp. 319-323. https://urn.nsk.hr/urn:nbn:hr:239:067523

Škrlec, Ivana, Jasenka Wagner, Silvija Pušeljić, Marija Heffer and Feodora Stipoljev. "De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p." Collegium antropologicum 38, no. 1 (2014): 319-323. https://urn.nsk.hr/urn:nbn:hr:239:067523

Škrlec, I., et al. (2014) 'De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p', Collegium antropologicum, 38(1), pp. 319-323. Available at: https://urn.nsk.hr/urn:nbn:hr:239:067523 (Accessed 17 November 2024)

Škrlec I, Wagner J, Pušeljić S, Heffer M, Stipoljev F. De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p. Collegium antropologicum [Internet]. 2014 [cited 2024 November 17];38(1):319-323. Available at: https://urn.nsk.hr/urn:nbn:hr:239:067523

I. Škrlec, J. Wagner, S. Pušeljić, M. Heffer and F. Stipoljev, "De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p", Collegium antropologicum, vol. 38, no. 1, pp. 319-323, 2014. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:239:067523. [Accessed: 17 November 2024]

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Metadata
Title (english)De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p
Title (croatian)De novo slučaj djelomične trisomije 4p I djelomične monosomije 8p
AuthorIvana Škrlec
MBZ: 366802
AuthorJasenka Wagner
MBZ: 268083
AuthorSilvija Pušeljić
MBZ: 263190
AuthorMarija Heffer
MBZ: 178985
AuthorFeodora Stipoljev
MBZ: 231504
Author's institution(Clinical hospital center Osijek)
Author's institutionJosip Juraj Strossmayer University of Osijek
Faculty of Medicine Osijek
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Clinical Cytology
Abstract (english)
The extent of clinical expression in cases of segmental aneuploidy often varies depending on the size of the chromosomal region involved. Here we present clinical and cytogenetic findings in a 5-month old boy with a duplication of a chromosomal segment 4p16.1®4pter and a deletion of a chromosomal segment 8p23.1®8pter. His karyotype was determined by applying classical GTG banding and FISH method (WHCR region, centromere 4, centromere 8, telomere 8p) as 46,XY,der(8)t(4;8)(p16.1;p23.1).ish der(8)t(4;8)(D8S504-,WHCR+,D8Z2+)dn. Parents are not related and have normal karyotypes, indicating de novo origin. We have compared similarity of the clinical features in our proband to other patients carrying only a duplication of the distal part of 4p or a deletion of distal part of 8p or similar combination described in the literature.
Abstract (croatian)
Fenotip pacijenata s djelomičnom aneuploidijom često ima varijabilnu kliničku sliku ovisnu o veličini kromosomskog segmenta uključenog u translokaciju. Prikazane su kliničke citogenetičke osobitosti dječaka starog pet mjeseci s duplikacijom dijela kromosoma 4p16.1®4pter i s gubitkom dijela kromosoma 8p23.1®pter. Kariotip probanda određen je primjenom klasičnog GTG pruganja kromosoma i korištenjem FISH proba (lokus specifična proba za WHCR regiju, centromera 4, centromera 8, telomera 8p): 46,XY,der(8)t(4;8)(p16.1;p23.1).ish der(8)t(4;8)(D8S504–,WHCR+,D8Z2+)dn. Roditelji nisu u srodstvu i utvrđen im je normalan kariogram. Usporedili smo sličnost kliničkih osobitosti našeg pacijenta s ostalim pacijentima opisanim u literaturi koji imaju samo duplikaciju distalnog dijela 4p ili deleciju distalnog dijela 8p, ili sličnu kombinaciju nebalansiranog kariotipa.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusAccepted
Peer reviewPeer review - international
Publication versionPublished version
Journal titleCollegium antropologicum
Numberingvol. 38, no. 1, pp. 319-323
p-ISSN0350-6134
URN:NBNurn:nbn:hr:239:067523
Publication2014
Document URLhttp://www.collantropol.hr/antropo/article/view/683
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2020-03-31 08:17:06