A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings
A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings
复制标题
DOI：
10.1016/j.tjog.2018.11.005
复制
发表时间：
2019-01-01
影响因子：
2.1
通讯作者：
Cioca, Andreea
中科院分区：
文献类型：
--
作者：
Farcas, Simona;Erdelean, Dragos;Cioca, Andreea
目的：我们描述了一种罕见的情况下，“纯”8 q重复产前诊断的常规核型分析，进一步特点是阵列比较基因组杂交（aCGH）。病例报告：一个39岁的，pregnada妇女进行了子宫穿刺术在妊娠23周，因为异常孕中期母血清唐氏综合征筛查。常规细胞遗传学分析显示核型为46，XX，der（8）（q24.12q24.3），aCGH鉴定出约27 Mb的重复，影响染色体8q24.12-q24.3的远端区域。双亲的肠外染色体核型正常，排除了家族性易位或其他重排。虽然产前超声波检查显示多处异常，但父母决定保留妊娠。这个婴儿在怀孕38周时出生，阿普加评分为2分。的演变是不利的，他死在第一个24小时内birth.Conclusion：分子调查有助于更准确地描述这些罕见的重复的患者，而且估计他们的预后。(C)2018台湾妇产科学会Taiwan Association of Obstetrics & Gynecology出版社：Elsevier B. V.
Objective: We describe a rare case of "pure" 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH).Case report: A 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimester maternal serum screening for Down syndrome. Conventional cytogenetic analysis demonstrated a karyotype of 46,XX,der(8) (q24.12q24.3) and aCGH identified a duplication of approximately 27 Mb, affecting the distal region of chromosome 8q24.12-q24.3. Parenteral karyotype of both parents was normal and excluded familial translocation or other rearrangements. Although prenatal ultrasound examination showed multiple anomalies the parents decided to keep the pregnancy. The baby was born at 38 weeks of gestation, with an Apgar score of 2. The evolution was unfavorable, and he died within the first 24 h of birth.Conclusion: Molecular investigations contribute to a more accurate characterization of the patients with these rare duplication, but also for estimating their prognosis. (C) 2018 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.