Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy
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DOI：
10.1007/s10815-008-9257-7
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发表时间：
2008-11-01
影响因子：
3.1
通讯作者：
Rotmensch, Sigfried
中科院分区：
文献类型：
--
作者：
di Vera, Elena;Liberati, Marco;Rotmensch, Sigfried
报告1例菱形脑突触畸形胎儿，产前诊断为9 p四体。结果表明，该细胞存在一条非嵌合的额外染色体，为等染色体9 p（9 p24-> q13：：q13 -> p24）。超声检查显示胎儿宫内发育迟缓、肾脏畸形、心脏畸形、脑室扩大及小脑蚓部发育不全合并小脑半球融合。结论虽然9 p四体小脑蚓部发育不全的大多数病例以Dandy-Walker畸形等囊性畸形描述，我们的病例表明，这种染色体异常应考虑到胎儿囊性和非囊性的发展，小脑蚓部和后颅窝囊性畸形。
Case report A fetus with rhombencephalosynapsis and prenatally diagnosed tetrasomy 9p is reported. Chromosomal analysis from amniocyte culture revealed non-mosaic supernumerary chromosome identified as isochromosome 9p ( 9p24 -> q13::q13 -> p24). Ultrasound scan revealed intrauterine growth retardation, renal anomalies, cardiac anomalies, ventriculomegaly, and agenesis of cerebellar vermis with fusion of the cerebellar hemispheres.Conclusion Although most cases of cerebellar vermis agenesis in tetrasomy 9p are described with cystic malformation such as Dandy-Walker anomaly, our case indicates that this chromosomal disorder should be taken into account in fetuses with the development of cystic and non-cystic malformations of cerebellar vermis and posterior fossa.