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Scientific paper - Case study
DE NOVO BALANSIRANA RECIPROČNA TRANSLOKACIJA: PRIKAZ DVA SLUČAJA
Medicina, 42(40) (2004), 4; 286-289. urn:nbn:hr:184:303363
Vraneković, Jadranka; Brajenović-Milić, Bojana; Nodrušan-Mozetič, Zlata; Kapović, Miljenko

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Vraneković, J., Brajenović Milić, B., Nodrušan Mozetič, Z. & Kapović, M. (2004). DE NOVO BALANSIRANA RECIPROČNA TRANSLOKACIJA: PRIKAZ DVA SLUČAJA. Medicina, 42(40). (4), 286-289. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:303363

Vraneković, Jadranka, et al. "DE NOVO BALANSIRANA RECIPROČNA TRANSLOKACIJA: PRIKAZ DVA SLUČAJA." Medicina, vol. 42(40), no. 4, 2004, pp. 286-289. https://urn.nsk.hr/urn:nbn:hr:184:303363

Vraneković, Jadranka, Bojana Brajenović Milić, Zlata Nodrušan Mozetič and Miljenko Kapović. "DE NOVO BALANSIRANA RECIPROČNA TRANSLOKACIJA: PRIKAZ DVA SLUČAJA." Medicina 42(40), no. 4 (2004): 286-289. https://urn.nsk.hr/urn:nbn:hr:184:303363

Vraneković, J., et al. (2004) 'DE NOVO BALANSIRANA RECIPROČNA TRANSLOKACIJA: PRIKAZ DVA SLUČAJA', Medicina, 42(40)(4), pp. 286-289. Available at: https://urn.nsk.hr/urn:nbn:hr:184:303363 (Accessed 13 November 2024)

Vraneković J, Brajenović Milić B, Nodrušan Mozetič Z, Kapović M. DE NOVO BALANSIRANA RECIPROČNA TRANSLOKACIJA: PRIKAZ DVA SLUČAJA. Medicina [Internet]. 2004 [cited 2024 November 13];42(40)(4):286-289. Available at: https://urn.nsk.hr/urn:nbn:hr:184:303363

J. Vraneković, B. Brajenović Milić, Z. Nodrušan Mozetič and M. Kapović, "DE NOVO BALANSIRANA RECIPROČNA TRANSLOKACIJA: PRIKAZ DVA SLUČAJA", Medicina, vol. 42(40), no. 4, pp. 286-289, 2004. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:303363. [Accessed: 13 November 2024]

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Metadata
Title (croatian)DE NOVO BALANSIRANA RECIPROČNA TRANSLOKACIJA: PRIKAZ DVA SLUČAJA
Title (english)DE NOVO BALANCED RECIPROCAL TRANSLOCATION: TWO CASES
AuthorJadranka Vraneković
AuthorBojana Brajenović-Milić
AuthorZlata Nodrušan-Mozetič
AuthorMiljenko Kapović
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (croatian)
U radu su prikazana dva slučaja s de novo balansiranom recipročnom translokacijom, koja su detektirana u sklopu prenatalne dijagnostike. U takvim slučajevima nemoguće je sa sigurnošću prognozirati fenotip ploda/djeteta zbog saznanja o mogućnostima njegove promjene u 6% slučajeva. Kariotip je odre|en GTG-metodom oprugavanja kromosoma te fluorescentnom in situ hibridizacijom sa sondama YAC 758H11 (20q12),PCP 433 (4q11->21) i YAC 758h10 (1p31.1), PCP 122 (2pter- >2q21). U oba slučaja trudnoća i poro|đaj protekli su bez komplikacija i rođena su zdrava djeca. Kontrolnim pedijatarskim pregledom godinu dana nakon porođaja utvr|en je uredan psihomotorni razvoj djece
Abstract (english)
In this study we describe two cases with de novo balanced reciprocal translocation detected by prenatal diagnosis. Genetic counselling can be problematic in such cases because the risk of phenotypic abnormality was 6%. Karyotyping was performed using the GTG-banding method and fluorescence in situ hybridisation with probes YAC 758H11 (20q12), PCP 433 (4q11->21) and YAC 758h10 (1p31.1), PCP 122 (2pter->2q21). In both cases, the pregnancies as well as the deliveries were carried out with no complication and both babies were born healthy. After a year they showed normal physical and mental development
Keywords (croatian)
Keywords (english)
Languagecroatian
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMedicina
Numberingvol. 42(40), no. 4, pp. 286-289
p-ISSN0025-7729
URN:NBNurn:nbn:hr:184:303363
Publication2004
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-06-09 14:15:02