Uehara S, Takabayashi T, Takeyama Y, Okamura K, Yajima A
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan.
Jpn J Hum Genet. 1995 Sep;40(3):259-63. doi: 10.1007/BF01876184.
A case of familial heterozygous pericentric inversion of chromosome 1 [inv(1)(p13q23)] is presented. The inversion was incidentally detected in a fetus whose mother received prenatal chromosomal diagnosis due to her age (40 years old), and thereafter the same inversion was detected in the father whose phenotype was normal. No abnormalities were found in the phenotype of the newborn carrier. Semen analysis of the father revealed normal findings. The couple had no history of spontaneous abortion.
本文报告一例1号染色体家族性杂合臂间倒位[inv(1)(p13q23)]。该倒位在一名胎儿中偶然发现，其母亲因年龄（40岁）接受了产前染色体诊断，随后在表型正常的父亲中也检测到相同的倒位。新生儿携带者的表型未发现异常。父亲的精液分析结果正常。这对夫妇无自然流产史。
