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PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH

dc.contributor.authorYakut Uzuner, Sezin
dc.contributor.authorŞimşek, M
dc.contributor.authorKaraman, Birsen
dc.contributor.authorKaraüzüm, Sibel
dc.contributor.authorSanhal, Cem Yaşar
dc.contributor.authorÇetin, Zafer
dc.date.accessioned2021-12-10T11:31:33Z
dc.date.available2021-12-10T11:31:33Z
dc.date.issued2015
dc.identifier.citationYakut Uzuner S., Çetin Z., Sanhal C. Y. , Karaüzüm S., Karaman B., Şimşek M., "PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH", Genetic Counseling, cilt.26, sa.3, ss.299-305, 2015
dc.identifier.issn1015-8146
dc.identifier.othervv_1032021
dc.identifier.otherav_83621798-1e79-46c8-946a-a22bfc1019c3
dc.identifier.urihttp://hdl.handle.net/20.500.12627/172059
dc.description.abstractA 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.
dc.language.isoeng
dc.subjectPathophysiology
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectGenetics
dc.subjectFamily Practice
dc.subjectGenetics (clinical)
dc.subjectFundamentals and Skills
dc.subjectGeneral Health Professions
dc.subjectInternal Medicine
dc.subjectHealth Sciences
dc.subjectLife Sciences
dc.subjectGeneral Medicine
dc.subjectMedicine (miscellaneous)
dc.subjectAssessment and Diagnosis
dc.subjectKlinik Tıp (MED)
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectKlinik Tıp
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTIP, GENEL & İÇECEK
dc.subjectGENETİK VE HAYAT
dc.titlePRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH
dc.typeMakale
dc.relation.journalGenetic Counseling
dc.contributor.departmentAkdeniz Üniversitesi , Tıp Fakültesi , Temel Tıp Bilimleri Bölümü
dc.identifier.volume26
dc.identifier.issue3
dc.identifier.startpage299
dc.identifier.endpage305
dc.contributor.firstauthorID2706384


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