Iwarsson E, Ahrlund-Richter L, Inzunza J, Fridström M, Rosenlund B, Hillensjö T, Sjöblom P, Nordenskjöld M, Blennow E
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
Mol Hum Reprod. 1998 Sep;4(9):871-5. doi: 10.1093/molehr/4.9.871.
We report the first case of preimplantation genetic diagnosis used in order to avoid chromosomal imbalance in the progeny of a woman mildly affected by DiGeorge syndrome and carrier of a microdeletion of chromosome 22q11.2. In total, seven embryos were biopsied in three separate treatments and analysed by fluorescent in-situ hybridization (FISH). Of these, four were carrying the deletion, two were normal and in one the analysis was inconclusive. The diagnostic procedure was performed within 5 h. This allowed the biopsied embryos to be transferred the same day as the biopsy was taken (day 3). Two embryos were transferred in the third treatment, but no pregnancy was established. Patients with a 22q11 microdeletion, who have a 50% risk of transmitting the deletion to their offspring, can now be offered preimplantation genetic diagnosis using FISH for the detection of a 22q11 deletion.
我们报告了首例应用植入前基因诊断以避免迪乔治综合征轻度患者及22q11.2染色体微缺失携带者后代出现染色体失衡的病例。总共在三次单独治疗中对七个胚胎进行了活检，并通过荧光原位杂交（FISH）进行分析。其中，四个携带缺失，两个正常，一个分析结果不确定。诊断程序在5小时内完成。这使得活检后的胚胎能够在活检当天（第3天）进行移植。在第三次治疗中移植了两个胚胎，但未成功妊娠。对于有50%将缺失遗传给后代风险的22q11微缺失患者，现在可以提供使用FISH进行植入前基因诊断以检测22q11缺失。
