一例外周血染色体核型为单纯型18三体但智力正常女性的遗传学研究

目的分析1例外周血染色体核型为单纯型18三体但智力正常女性的遗传学机制。方法用G显带染色体核型分析、荧光原位杂交(fluorescence in situ hybridization,FISH)和单核苷酸多态性微阵列芯片(single nucleotide polymorphism microarray,SNP-array)技术对患者的外周血和颊粘膜细胞进行检测。结果患者的外周血染色体核型、SNP-array以及FISH检测结果均提示为47,XX,+18;颊粘膜间期细胞FISH检测结果提示为45,X合并低比例的18三体和18单体。结论胚层染色体嵌合的个体临床表现复杂,遗传学异常所造成的影响取决于相关胚层分化所形成的器官及功能。

Analysis of a female with a peripheral blood lymphocytic karyotype of trisomy 18 but normal intelligence

Objective To explore the genetic basis for a female with a peripheral lymphocyte karyotype of trisomy 18 but normal intelligence.Methods G-banding karyotype analysis,fluorescence in situ hybridization(FISH)and single nucleotide polymorphism microarray(SNP-array)were employed to analyze the peripheral blood sample and buccal cells from the patient.Results Chromosomal karyotyping,SNP-array and FISH analysis of the patient’s peripheral blood all suggested 47,XX,+18.Interphase FISH analysis of buccal cells,however,revealed presence of 45,X and low percentage of trisomy 18 and monosomy 18.Conclusion The clinical manifestation of germ layer chromosomal mosaicism is complex.The impact of the genetic disorder on the individual will depend on the structure and function derived from the affected germ layer.