目的:探讨染色体1p36缺失综合征和3p26.3p25.2重复胎儿的特征。
方法:选择2022年2月22日在临沂市人民医院遗传咨询门诊就诊的一名孕妇及其胎儿作为研究对象。收集临床数据。染色体核型分析,进行了荧光原位杂交(FISH)和染色体微阵列分析(CMA)的产前诊断。
结果:第24孕周超声检查显示胎儿有室间隔缺损,单脐动脉,左侧脑室轻度增宽(12毫米)。该妇女被发现具有46,XX的核型,t(1;3)(p36.22;p25.2),FISH结果为t(1;3)(3pter+,1qter+;1pter+,3qter+)。胎儿被发现核型为46,X?,添加(1)(P36),CMA证实它在1p36.33p36.22处具有9.0Mb的缺失,在3p26.3p25.2处具有12.6Mb的重复。结合母体核型,胎儿的分子核型被确定为46,X?,der(1)t(1;3)(p36.22;p25.2)垫。arr[hg19]1p36.33p36.22(849467_9882666)×1,3p26.3p25.2(61892_12699607)×3,前者与1p36缺失综合征有关。
结论:胎儿被诊断为1p36缺失综合征,其1p36.33p36.22缺失和3p26.3p25.2重复均源于其母亲携带的平衡易位。
OBJECTIVE: To explore the characteristics of a fetus with chromosome 1p36 deletion syndrome and 3p26.3p25.2 duplication.
METHODS: A pregnant woman who had attended the Genetic Counseling Clinic of Linyi People\'s Hospital on February 22, 2022 and her fetus were selected as the study subjects. Clinical data were collected. Chromosomal karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) were carried out for the prenatal diagnosis.
RESULTS: Ultrasonography at 24th gestational week revealed that the fetus had ventricular septal defect, single umbilical artery, and slight widening of left lateral ventricle (12 mm). The woman was found to have a karyotype of 46,XX,t(1;3)(p36.22;p25.2), and the result of FISH was t(1;3)(3pter+,1qter+;1pter+,3qter+). The fetus was found to have a karyotype of 46,X?,add(1)(p36), and CMA confirmed that it has a 9.0 Mb deletion at 1p36.33p36.22 and a 12.6 Mb duplication at 3p26.3p25.2. Combining the maternal karyotype, the molecular karyotype of the fetus was determined as 46,X?,der(1)t(1;3)(p36.22;p25.2)mat.arr[hg19]1p36.33p36.22(849467_9882666)×1, 3p26.3p25.2(61892_12699607)×3, with the former known to be associated with 1p36 deletion syndrome.
CONCLUSIONS: The fetus was diagnosed with 1p36 deletion syndrome, and its 1p36.33p36.22 deletion and 3p26.3p25.2 duplication had both derived from the balanced translocation carried by its mother.