Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2020 Jul;59(4):598-603. doi: 10.1016/j.tjog.2020.05.022.
We present prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound, and we discuss the genotype-phenotype correlation.
A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(1) (q42.3q44). Simultaneous array comparative genomic hybridization analysis on uncultured amniocytes revealed arr 1q42.3q44 (234,747,397-246,081,267) × 1 [GRCh37 (hg19)] with an 11.33-Mb 1q42.3-q44 deletion encompassing RGS7, FH, CEP170, AKT3, ZBTB18 and HNRNPU. The parental karyotypes were normal. Prenatal ultrasound at 20 weeks of gestation revealed bilateral ventriculomegaly and dilation of the third ventricle. The pregnancy was subsequently terminated, and a malformed female fetus was delivered with characteristic facial dysmorphism. Postnatal conventional and molecular cytogenetic analyses confirmed the prenatal diagnosis. Polymorphic DNA marker analysis showed a paternal origin of the distal 1q deletion in the fetus.
Fetuses with a chromosome 1q42.3-q44 deletion may present ventriculomegaly on prenatal ultrasound. Prenatal diagnosis of ventriculomegaly should include a differential diagnosis of chromosome 1q distal deletions, and aCGH is useful under such a circumstance.
我们报告了一例胎儿染色体 1q42.3-q44 缺失的产前诊断和分子细胞遗传学特征，该胎儿在产前超声检查中存在脑室扩大，并讨论了基因型-表型相关性。
一名 36 岁的女性因高龄接受了 17 周的羊膜穿刺术。羊膜穿刺术显示核型为 46,XX,del(1) (q42.3q44)。同时对未培养的羊水细胞进行的比较基因组杂交分析显示，arr 1q42.3q44(234,747,397-246,081,267)×1 [GRCh37(hg19)]，存在 11.33-Mb 1q42.3-q44 缺失，包括 RGS7、FH、CEP170、AKT3、ZBTB18 和 HNRNPU。父母的核型均正常。妊娠 20 周时的产前超声检查显示双侧脑室扩大和第三脑室扩张。随后终止妊娠，娩出一名畸形女性胎儿，具有特征性的面部畸形。产后常规和分子细胞遗传学分析证实了产前诊断。多态性 DNA 标记分析显示胎儿的 1q 远端缺失来源于父亲。
染色体 1q42.3-q44 缺失的胎儿可能在产前超声检查中出现脑室扩大。对脑室扩大的产前诊断应包括染色体 1q 远端缺失的鉴别诊断，在这种情况下，aCGH 是有用的。
