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首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings
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A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings

机译：罕见的部分三体性8q24.12-q24.3和部分单体性8q24.3的罕见病例：产前诊断和临床发现

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ObjectiveWe describe a rare case of “pure” 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH).Case reportA 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.ConclusionMolecular investigations contribute to a more accurate characterization of the patients with these rare duplication, but also for estimating their prognosis.
机译：目的我们描述了一种罕见的病例，该病例通过常规核型分型在产前诊断为“纯” 8q复制，并通过阵列比较基因组杂交（aCGH）进一步表征。病例报告一名39岁的初产妇在妊娠23周时进行了羊膜穿刺术孕中期孕妇血清筛查唐氏综合症异常。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，影响了8q24.12-q24.3染色体的末端区域。父母双方的肠胃外核型均正常，并排除家族易位或其他重排。尽管产前超声检查显示多个异常，父母还是决定继续怀孕。婴儿在妊娠38周时出生，Apgar评分为2。进化不利，他在出生后的头24小时内死亡。结论分子检查有助于更准确地表征这些罕见重复患者，而且还用于估计他们的预后。

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