Hou Qiao-Fang, Wu Dong, Chu Yan, Liao Shi-Xiu
Prenatal Diagnosis Center, Henan Provincial People's Hospital, Zhengzhou, PR China; People's Hospital of Zhengzhou University, Zhengzhou, PR China.
Prenatal Diagnosis Center, Henan Provincial People's Hospital, Zhengzhou, PR China; People's Hospital of Zhengzhou University, Zhengzhou, PR China.
Taiwan J Obstet Gynecol. 2016 Dec;55(6):867-870. doi: 10.1016/j.tjog.2016.11.001.
The aim of this report is to describe the phenotype-genotype correlation of chromosome 9p deletion syndrome cases, particularly the prenatal cases.
A 30-year-old woman was referred to a hospital at 19 weeks of gestation because of omphalocele detected in the fetus. The conventional karyotyping analysis and array comparative genomic hybridization (aCGH) were utilized for the prenatal diagnosis and genetic counseling in the fetus. The prenatal abnormality and cytogenetic findings in the fetus were compared with other patients with 9p deletion.
Karyotype analysis of the fetus cell showed a karyotype of 46,XX,del(9)(p22). aCGH analysis detected a deletion as arr[hg19] 9p24.2p22.2(226,7812-1,7466,907)×1. Individuals with 9p deletions tend to have features with widely variable expressivity. The common clinical manifestations of the 9p deletion include development delay, learning difficulties, hypotonia and trigonocephaly.
Phenotypes of 9p deletion cases are broadly in line. The prenatal diagnosis of the omphalocele provides evidence for a correlation with distal 9q deletion.
本报告旨在描述9号染色体短臂缺失综合征病例的表型-基因型相关性，尤其是产前病例。
一名30岁女性在妊娠19周时因胎儿脐膨出被转诊至医院。采用常规核型分析和阵列比较基因组杂交（aCGH）对胎儿进行产前诊断和遗传咨询。将胎儿的产前异常和细胞遗传学结果与其他9号染色体短臂缺失患者进行比较。
胎儿细胞的核型分析显示核型为46,XX,del(9)(p22)。aCGH分析检测到一个缺失，结果为arr[hg19] 9p24.2p22.2(226,7812-1,7466,907)×1。9号染色体短臂缺失的个体往往具有表达广泛可变的特征。9号染色体短臂缺失的常见临床表现包括发育迟缓、学习困难、肌张力低下和三角头畸形。
9号染色体短臂缺失病例的表型大致一致。脐膨出的产前诊断为与9号染色体长臂远端缺失的相关性提供了证据。
