Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p in intracytoplasmic-sperm-injection pregnancy

摘要

Case reportA 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.