Ocak Z, Ozlu T, Vural M
Department of Medical Genetics, Suleymaniye Maternity Hospital for Research and Training, Istanbul, Turkey.
Genet Couns. 2013;24(2):157-60.
Because of the deletion of a segment of the chromosome during the formation of a ring, several clinical findings may be associated with ring chromosomes. Ring chromosome 13 is one of such disorders in which the genotype-phenotype correlation is stronger by virtue of the accumulating literature. It can be associated with multiple congenital abnormalities and severe mental retardation. We report a case with mosaic ring chromosome 13 whose prenatal ultrasound revealed bilateral ventriculomegaly. Anal atresia, unidentifiable external genitalia, and an absent thumb were observed in the postmortem examination.
由于在环状染色体形成过程中染色体片段的缺失，一些临床发现可能与环状染色体相关。13号环状染色体就是这样一种疾病，鉴于不断积累的文献，其基因型与表型的相关性更强。它可能与多种先天性异常和严重智力发育迟缓有关。我们报告一例嵌合型13号环状染色体病例，其产前超声显示双侧脑室扩大。尸检发现肛门闭锁、外生殖器无法辨认和拇指缺如。
