Aronson D C, Jansweijer M C, Hoovers J M, Barth P G
Clin Genet. 1987 Jan;31(1):48-52. doi: 10.1111/j.1399-0004.1987.tb02766.x.
An infant with holoprosencephaly and a karyotype 46,XY,r(21) is reported. No distinctive craniofacial features suggesting holoprosencephaly were present in this infant who presented with epilepsy, microcephaly and scoliosis with hemivertebra Th 10. This is the first report which links deletion of chromosome 21q to the holoprosencephaly phenotype.
本文报道了一名患有全前脑畸形且核型为46,XY,r(21)的婴儿。该婴儿表现为癫痫、小头畸形和第10胸椎半椎体引起的脊柱侧弯，未出现提示全前脑畸形的明显颅面特征。这是首篇将21号染色体长臂缺失与全前脑畸形表型联系起来的报道。
