Bernert J, Bartels I, Gatz G, Hansmann I, Heyat M, Niedmann P D, Rehder H, Waldenmaier C, Zoll B
Institut für Humangenetik, Universität Göttingen, Germany.
Am J Med Genet. 1992 Mar 1;42(5):747-50. doi: 10.1002/ajmg.1320420525.
Prenatal cytogenetic analysis at 11 weeks of gestation revealed an abnormal karyotype 47,XX,+mar in all metaphases obtained from a chorionic villi sample after 24 h culture. Karyotyping of amniotic fluid cells in the second trimester showed mosaicism 47,XX,+i(12p)/46,XX with 10% aneuploid cells. The pregnancy was terminated at 20 weeks of gestation on the patient's request. The aborted fetus showed typical manifestations of the Pallister-Killian mosaic aneuploidy syndrome. The identity of the supernumerary isochromosome 12p was proven by LDH isozyme electrophoresis using cultured fibroblasts and by nonradioactive in situ hybridization using a biotinylated set of chromosome 12-specific DNA probes.
妊娠11周时的产前细胞遗传学分析显示，经24小时培养后，从绒毛膜绒毛样本获得的所有中期分裂相中，核型均异常，为47,XX,+mar。孕中期羊水细胞的核型分析显示为嵌合体47,XX,+i(12p)/46,XX，非整倍体细胞占10%。应患者要求，妊娠在20周时终止。流产胎儿表现出典型的帕利斯特-基利安嵌合非整倍体综合征症状。通过使用培养的成纤维细胞进行乳酸脱氢酶同工酶电泳以及使用一组生物素化的12号染色体特异性DNA探针进行非放射性原位杂交，证实了额外的等臂染色体12p的身份。
