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首页> 外文期刊>Case Reports in Genetics >Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature
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Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

机译：部分三体性13q和部分性单体性10p的产前诊断和产后随访：1例病例报告并文献复习

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We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter. The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by history of one miscarriage and two neonatal deaths. The fetal karyotyping on cultured amniocytes showed 46,XX,der(10)t(10;13)(p15.3;q21.33). Oligonucleotide array comparative genomic hybridization (aCGH) defined a 2.339 Mb distal deletion at 10p15.3 (chr10:126,161–2,465,089) and a 46.344 Mb duplication of 13q21.33–q34 (chr13:67,779,708–114,123,540). Ultrasound examination showed polydactyly and polyhydramnios in the fetus. After genetic counseling, the mother decided to continue the pregnancy, and follow-up ultrasound monitoring found no further abnormalities. A girl was delivered at 37+6weeks of gestation and was transferred to the intensive care unit for intermittent convulsions within 26 hours. She was diagnosed with neonatal hypoxic ischemic encephalopathy and experienced several episodes of apnea in the following month. Her birth weight was 2900 g (10–25th centile) and at five months was 5500 g (5–10th centile). She had dysmorphic features and mild psychomotor retardation. A review of the literature found three previously reported cases with similar compound 10p/13q abnormalities. We discuss a two-step approach to assess fetal viability and phenotype using genomic information from partial trisomy and monosomy.
机译：我们报告了胎儿的产前诊断和产后发现，该胎儿具有13q21.33-qter部分三体性和10p15.3-pter部分单体性。母亲是已知的平衡易位的携带者，t（10; 13）（p15.3; q21.33），根据一次流产和两次新生儿死亡的历史确定。在培养的羊膜细胞上的胎儿核型分析显示46，XX，der（10）t（10; 13）（p15.3; q21.33）。寡核苷酸阵列比较基因组杂交（aCGH）定义了10p15.3处2.339 Mb远端缺失（chr10：126,161–2,465,089）和13q21.33–q34处46.344 Mb重复（chr13：67,779,708–114,123,540）。超声检查显示胎儿多指和羊水过多。经过遗传咨询后，母亲决定继续妊娠，随后的超声检查未发现进一步异常。妊娠37 + 6周时分娩了一名女孩，并在26小时内将其转移到重症监护室进行间歇性抽搐。她被诊断出患有新生儿缺氧缺血性脑病，并在接下来的一个月经历了几次呼吸暂停。她的出生体重为2900微克（10至25个百分点），五个月时为5500微克（5至10个百分点）。她具有畸形特征和轻度的精神运动迟缓。文献综述发现，三例先前报道的病例具有相似的化合物10p / 13q异常。我们讨论了使用部分三体性和单体性的基因组信息评估胎儿生存力和表型的两步法。

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