Kim H J, Levy J, Reguero W, Iu B, Wallach R C
Diagn Gynecol Obstet. 1980 Fall;2(3):231-4.
A pericentric inversion of chromosome 12 was detected in an unborn baby by a second-trimester amniocentesis for prenatal diagnosis because of advanced maternal age. Subsequently, the identical pericentric inversion was found in the phenotypically normal father and a sibling. In this case of familial pericentric inversion, the parents were assured that their unborn baby was anticipated to be normal. The importance of banding studies for precise identification of structurally abnormal chromosomes and the need for chromosome study of family members for the peroper counseling of prenatal diagnosis of such a variant chromosome are discussed.
由于孕妇年龄较大，在孕中期进行羊膜穿刺术以进行产前诊断时，在一名未出生的婴儿中检测到12号染色体的臂间倒位。随后，在表型正常的父亲和一名兄弟姐妹中发现了相同的臂间倒位。在这种家族性臂间倒位的病例中，向父母保证他们未出生的婴儿预计会是正常的。讨论了染色体显带研究对于精确识别结构异常染色体的重要性，以及对家庭成员进行染色体研究以便对这种变异染色体的产前诊断进行遗传咨询的必要性。
