13三体表现为新生儿双眼无眼、左足轴后多指畸形和面部粗糙:1例报告

P. Y. Ozcan, H. Çelik, E. Tuncez, Melda Çelik
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引用次数: 0

摘要

多染色体的以在身体的每个细胞中都有额外的13号染色体为特征的该综合征是活产婴儿中第三常见的常染色体三体综合征据估计,活产的患病率在1/ 10,000至1/ 20,000之间,通常是自然流产这种罕见但致命的染色体疾病与多种先天性异常有关,包括小眼症或眼无症、小头畸形、全前脑畸形、头皮缺损、手或脚轴后多指畸形、口面裂、先天性心脏缺陷以及严重的智力和生长迟缓中华眼科杂志,2017;26(4):293-6
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Trisomy 13 Presented with Bilateral Anophthalmia, Postaxial Polydactyly on the Left Foot and Coarse Facial Appearance in a Newborn Infant: Case Report
characterized by the presence of an extra chromosome 13 in each cell of the body. This syndrome is the third most commonly diagnosed autosomal trisomy syndrome among liveborn infants.1 The prevalance is estimated between 1/10 000 and 1/20 000 in live births, generally resulting with spontaneous abortion.2 This rare but lethal chromosomal disorder is associated with multiple congenital anomalies including microphthalmia or anophthalmia, microcephaly, holoprocencephaly, scalp defects, postaxial polydactyly of the hands or feet, orofacial clefting, congenital heart defects, and severe mental and growth retardation.3 Turkiye Klinikleri J Ophthalmol 2017;26(4):293-6
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