摘要
目的分析1例Kleefstra综合征1型的临床及分子遗传学特点。方法回顾性分析患儿的临床资料,应用染色体核型及全基因组CNV分析。结果患儿染色体核型分析结果:45,XX,-9[4]/46, XX,r(9)(p24q34)[56]。全基因组CNV检测示患者携带9号染色体q34.3位置约670 kb的杂合缺失变异,该缺失位置位于q末端且完整包含EHMT1基因,与染色体疾病Kleefstra综合征1型/9q端粒缺失综合征高度相关。另外该患儿还携带9号染色体p末端杂合缺失,可能与染色体畸变(9号染色体长短臂结合成环状)相关。结论确诊1例Kleefstra综合征1型并9号环状染色体患儿,国内尚未见报道,为准确的遗传咨询及产前诊断提供依据。
Objective To analyze the clinical and molecular genetic characteristics of patient with Kleefstra syndrome 1. Methods Clinical data, chromosomal karyotype and whole genome copy number variations (CNVs) of the patient were analyzed. Results The patient was found to have a karyotype of 45, XX,-9[4]/46, XX, r(9)(p24q34)[56]. Whole-genome CNVs detection revealed that she has carried a heterozygous deletion of approximately 670 kb at 9q34.3, which encompassed the entire EHMT1 gene. The region is strongly associated with Kleefstra syndrome (1/9q telomere deletion). In addition, the patient also had heterozygous deletion of 9pter, which may predispose to formation of ring chromosome 9. Conclusion The child was diagnosed with Kleefstra syndrome type 1 in conjunct with ring chromosome 9.
作者
吕楠
李东晓
李靖婕
尚清
马彩云
Lyu Nan;Li Dongxiao;Li Jingjie;Shang Qing;Ma Caiyun(Rehabilitation Center, Children’s Hospital Affiliated to Zhengzhou University,Zhengzhou, Henan 450003,China;Henan Provincial Key Laboratory for Inborn Error of Metabolism, Children’s Hospital Affiliated to Zhengzhou University,Children’s Hospital of Henan Province, Zhengzhou Children’s Hospital, Zhengzhou,Henan 450003,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第8期837-840,共4页
Chinese Journal of Medical Genetics
