一名具有轻微畸形特征儿童的13号环状染色体。13号环状染色体综合征的不规则表型表达。
Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome.
作者信息
Verma R S, Dosik H, Chowdhry I H, Jhaveri R C
出版信息
Am J Dis Child. 1978 Oct;132(10):1018-21. doi: 10.1001/archpedi.1978.02120350082018.
Abstract
A patient with ring chromosome 13 had some physical and stigmata that to our knowledge have not been reported in previous articles. These include alopecia, scattered pigmentation, trigonocephaly, and telecanthic fold. This case reemphasizes how mitotic instability can produce clinical features during the critical period of organogenesis.
摘要
一名患有13号环状染色体的患者有一些身体特征和体征，据我们所知，此前的文章中尚未有过相关报道。这些特征包括脱发、散在色素沉着、三角头畸形和内眦赘皮褶。该病例再次强调了有丝分裂不稳定性如何在器官发生的关键时期产生临床特征。
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