文章基本信息

标题：Two Rare Variants of Down Syndrome: Down-Turner Syndrome and Down Syndrome with Translocation (13;14): A Case Report
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作者：Evren GUMUS
期刊名称：Iranian Journal of Public Health
印刷版ISSN：2251-6085
电子版ISSN：2251-6093
出版年度：2019
卷号：48
期号：11
DOI：10.18502/ijph.v48i11.3529
语种：English
出版社：Tehran University of Medical Sciences
摘要：In the present paper, we report two rare cases of Down syndrome (DS); mosaic Down-Turner syndrome and DS with rob (13;14). Patient 1 karyotype is mos 45,X[41] / 47, XX,+21[59] and patient 2 karyotype is 46, XY, rob (13;14)(q10;q10),+21. With these two unusual cases, we aimed to look at the most common numerical and structural chromosome anomalies from a different window and evaluate the phenotypic effect in the presence of different chromosomal anomalies. Our main goal is to evaluate the phenotypic characteristics of these two rare variants in the light of literature.