ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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Triploidy Syndrome With 69,xxx Karyotype: Case Report
Dr. Sezgin GÜNEŞ,a Dr. Yonca AÇIKGÖZ,b Dr. Nurten KARA,a Dr. Gülsen ÖKTEN,a Dr. Özlem SEZER,a Dr. Serbülent YİĞİTa
aTıbbi Biyoloji AD, Tıbbi Genetik BD, Ondokuz Mayıs Üniversitesi Tıp Fakültesi,bSamsun Gazi Devlet Hastanesi, SAMSUN
Triploidy is a chromosomal abnormality characterized by the presence of an additional haploid set of chromosomes. Triploidy is estimated to occur in 3% of conceptions. Most triploids are aborted spontaneously in the first trimester, while those who proceed to live birth die at an early postnatal stage. These fetuses have multiple severe congenital abnormalities and growth restriction. In this article, we presented an infant who lived for 12 days. Chromosomal analysis was performed from peripheral blood samples using standard procedures on the fourth day of life. Chromosomal analysis demonstrated 69,XXX karyotype with no evidence of mosaicism. The infant showed the common clinical features of 69,XXX liveborns such as hypotonia, respiratory distress, low-set and malformed ears , cutaneous syndactyly and overlapping of fingers.Keywords: Chromosome aberrations; abnormalitiesTurkiye Klinikleri J Med Sci 2007, 27:276-278
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