Приказ основних података о документу

dc.creatorKolarski, Milenko
dc.creatorJoksić, Gordana
dc.creatorBeres, Maja
dc.creatorKrstić, Aleksandar
dc.creatorJoksić, Ivana
dc.creatorDobrojevic, Boris
dc.creatorNikic, Slavko
dc.date.accessioned2018-03-01T20:41:02Z
dc.date.available2018-03-01T20:41:02Z
dc.date.issued2009
dc.identifier.issn0932-0067
dc.identifier.urihttps://vinar.vin.bg.ac.rs/handle/123456789/3625
dc.description.abstractWe report the first case of Pallister-Killian syndrome diagnosed prenatally in Western Balkan region where one of the ultrasound markers was intrauterine growth restriction. During routine ultrasound control of the pregnancy at 21st gestation week (second pregnancy of the 25 year old woman) symmetrical intrauterine growth restriction (IUGR), short long bones, ventriculomegaly and oligoamnion were noted. Amniotic fluid was examined cytogenetically. Fetal karyotype obtained by GTG banding of amniocytes revealed mosaic female karyotype 46,XX/47,XX,+mar (F-like). C-banding indicated that F-like marker does not belong to F, E or G chromosomal group. Employing targeted FISH with arm-specific probe for chromosome 12, tetrasomy 12p was confirmed. Fetal lymphocytes revealed normal female karyotype. This case showed that i(12p) could be found in pregnancy of young woman, not only in those of advanced age, as usually reported in the literature. This case also showed that intrauterine growth restriction could be one of the ultrasound markers associated with Pallister-Killian syndrome.en
dc.relationSerbian Ministry of Science and Environmental Protection [143046]
dc.rightsrestrictedAccessen
dc.sourceArchives of Gynecology and Obstetricsen
dc.subjectPrenatal diagnosisen
dc.subjectIUGRen
dc.subjectAmniocentesisen
dc.subjectTetrasomy 12pen
dc.titlePrenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISHen
dc.typearticleen
dcterms.abstractКоларски, Миленко; Берес, Маја; Крстиц, Aлександар; Добројевиц, Борис; Никиц, Славко; Јоксић Гордана; Јоксић Ивана;
dc.citation.volume279
dc.citation.issue3
dc.citation.spage377
dc.citation.epage379
dc.identifier.wos000262784600020
dc.identifier.doi10.1007/s00404-008-0704-6
dc.citation.rankM23
dc.identifier.pmid18560861
dc.identifier.scopus2-s2.0-58849122710


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