dc.contributor.author | Yakut, Sezin | |
dc.contributor.author | Çetin, Zafer | |
dc.contributor.author | Sanhal, Cem Yaşar | |
dc.contributor.author | Karaüzüm, Sibel Berker | |
dc.contributor.author | Karaman, Birsen | |
dc.contributor.author | Şimşek, Mehmet Masum | |
dc.date.accessioned | 2021-06-09T13:50:07Z | |
dc.date.available | 2021-06-09T13:50:07Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 1015-8146 | |
dc.identifier.other | 26625660 | |
dc.identifier.uri | http://openaccess.sanko.edu.tr/xmlui/handle/20.500.12527/200 | |
dc.description.abstract | A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry. A non-satellited, monocentric marker chromosome was observed with a frequency of 50% in cultured amniocytes. Parental karyotypes were normal. The marker chromosome was found to be derived from chromosome 16 by FISH and array-CGH analysis. Genetic counseling was given to parents and the family decided to terminate the pregnancy. Dysmorphic findings including; low set ears, exophtalmos depressed nasal bridge, large mouth and lips, posture anomalies at the extremities were detected at autopsy. | en_US |
dc.language.iso | English | en_US |
dc.publisher | MEDECINE ET HYGIENE, CH DE LA MOUSSE 46, CASE POSTALE 475, CH-1225 CHENE-BOURG, SWITZERLAND | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | MOLECULAR CYTOGENETIC CHARACTERIZATION | en_US |
dc.subject | COMPARATIVE GENOMIC HYBRIDIZATION | en_US |
dc.subject | REARRANGEMENTS | en_US |
dc.title | PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH. | en_US |
dc.type | Article | en_US |
dc.relation.journal | GENETIC COUNSELING | en_US |
dc.identifier.issue | 26 | en_US |
dc.identifier.startpage | 299 | en_US |
dc.identifier.endpage | 305 | en_US |
dc.identifier.volume | 3 | en_US |
dc.contributor.authorID | 0000-0003-0125-235X : Zafer Çetin | en_US |
dc.contributor.authorID | 0000-0001-8640-0176 : Birsen Karaman | en_US |
dc.identifier.wos | 000370465000002 | en_US |
dc.contributor.sankoauthor | Zafer Çetin | en_US |
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