Scientific paper - Case study
DE NOVO BALANCED RECIPROCAL TRANSLOCATION: TWO CASES

Vraneković, Jadranka; Brajenović-Milić, Bojana; Nodrušan-Mozetič, Zlata; Kapović, Miljenko (2004)
Metadata
Language Croatian
Title (Croatian)DE NOVO BALANSIRANA RECIPROČNA TRANSLOKACIJA: PRIKAZ DVA SLUČAJA
Title (English)DE NOVO BALANCED RECIPROCAL TRANSLOCATION: TWO CASES
AuthorVraneković, Jadranka
Brajenović-Milić, Bojana
Nodrušan-Mozetič, Zlata
Kapović, Miljenko
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)de novo balansirane recipročne translokacije FISH GTG
Keywords (English)de novo balanced reciprocal translocation FISH GTG
Publication typescientific paper - case study
Publication statuspublished
Peer reviewpeer review
Journal titleMedicina
Numbering2004, Vol. 42(40), No. 4, pp 286-289
ISSN0025-7729
Datepublication: 2004.
Scientific fieldBIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
InstitutionUniversity of Rijeka, Faculty of Medicine
(Department of Biology and Medical Genetics)
URN:NBNhttps://urn.nsk.hr/urn:nbn:hr:184:303363