由于新发不平衡易位导致的10号染色体长臂26区至末端单体性和11号染色体长臂13区至末端三体性。
Monosomy 10q26-qter and trisomy 11q13-qter as a result of de novo unbalanced translocation.
作者信息
Tinsa F, Chebbi Y, Meddeb M, Bousnina D, Boussetta K, Bousnina S
机构信息
Department of Paediatrics B of the Children's Hospital of Tunis, Jabbary, Bab Saadoun, Tunis, Tunisia.
出版信息
J Appl Genet. 2009;50(3):289-91. doi: 10.1007/BF03195685.
A male infant with partial monosomy 10 q and partial trisomy 11q as a result of de novo unbalanced translocation between the long arms of chromosomes 10 and 11: der(10)t(10;11)(q26;q13) is described. He had craniofacial dysmorphy, congenital heart defects, urogenital and cerebral anomalies, and severe developmental delay. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities.
描述了一名男婴，由于10号和11号染色体长臂之间发生新生不平衡易位，导致10q部分单体和11q部分三体：der(10)t(10;11)(q26;q13)。他患有颅面畸形、先天性心脏缺陷、泌尿生殖系统和脑部异常以及严重发育迟缓。据我们所知，这是这种染色体异常组合的首次报告。
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