PDF(Pubmed)
Abstract：
18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy. Trisomy 8p Syndrome is characterized by heterogenous phenotype, with the most frequent components to be cardiac malformation, developmental and intellectual delay. Its prenatal diagnosis is very rare due to the unspecific sonographic features of the affected fetuses. We present a very rare case of a fetus with multiple anomalies diagnosed during the second trimester whose genomic analysis revealed a 18p Deletion and 8p trisomy Syndrome. This is the first case where this combination of DNA mutations has been described prenatally and the second case in general. The presentation of this case, as well as the detailed review of all described cases, aim to expand the existing knowledge regarding this rare condition facilitating its diagnosis in the future.
摘要：
18p缺失综合征是最常见的常染色体终末缺失综合征之一，影响到每50,000个活产中就有一个。该综合征具有非特异性临床特征，在患者之间差异很大，并且可能与其他遗传状况重叠。其产前描述极为罕见，因为在怀孕期间通常不存在胎儿表型。三体8p综合征的特点是异质性表型，最常见的成分是心脏畸形，发育和智力延迟。由于受影响胎儿的超声特征不明确，其产前诊断非常罕见。我们提出了一个非常罕见的案例，即在孕中期诊断出多种异常的胎儿，其基因组分析显示18p缺失和8p三体综合征。这是第一种情况，其中DNA突变的组合已在产前进行了描述，而第二种情况通常是这样。这个案例的介绍,以及对所有描述案件的详细审查，旨在扩大有关这种罕见疾病的现有知识，以便将来进行诊断。
