19p13.3-p13.2部分三体从产前诊断到7年随访：病例报告及文献复习

文献信息

中文摘要

背景： 染色体19短臂（19p）部分三体是一种罕见的染色体异常，具有显著的临床意义。方法：我们报告一名19p13.3-p13.2部分三体男童的产前诊断及7年随访，该男童伴有多发先天畸形，包括小头畸形、单侧肾积水、轻度双侧听力损失、生长发育迟缓及全面发育迟缓。结果：妊娠期并发产前发现的严重羊水过少和严重宫内生长受限。羊膜腔穿刺染色体微阵列分析发现6.8 Mb拷贝数增加，累及染色体19p13.3-p13.2，arr [GRCh37] 19p13.3-p13.2 (260,911_7,089,557)x3。母亲细胞遗传学分析显示涉及13号和19号染色体的表观平衡相互易位，支持通过不平衡染色体分离遗传。结论：本报告讨论了该患者的细胞遗传学和临床发现。据我们所知，这是中东地区首例由母亲相互易位导致的19p13.3-p13.2部分三体报告。

英文摘要

Partial trisomy of the short arm of chromosome 19 (19p) is a rare chromosomal abnormality with significant clinical implications. We report the prenatal diagnosis and 7-year follow-up of a boy with partial trisomy 19p13.3-p13.2 and multiple congenital anomalies including microcephaly, unilateral hydronephrosis, mild bilateral hearing loss, failure to thrive, and global developmental delay. The pregnancy was complicated by antenatal findings of severe oligohydramnios and severe intrauterine growth restriction. Amniocentesis with chromosomal microarray analysis identified a 6.8 Mb copy number gain involving chromosome 19p13.3-p13.2, arr [GRCh37] 19p13.3-p13.2 (260,911_7,089,557)x3. Maternal cytogenetic analysis revealed an apparently balanced reciprocal translocation involving chromosome 13 and 19, supporting inheritance through unbalanced chromosomal segregation. The cytogenetic and clinical findings of our patient are discussed in this report. To our knowledge, this is the first report of partial trisomy 19p13.3-p13.2 as a result of maternal reciprocal translocation in the Middle East.