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Case Reports
. 1987 Jan;31(1):48-52.
doi: 10.1111/j.1399-0004.1987.tb02766.x.

A male infant with holoprosencephaly, associated with ring chromosome 21

D C Aronson, M C Jansweijer, J M Hoovers, P G Barth
Case Reports

A male infant with holoprosencephaly, associated with ring chromosome 21

D C Aronson et al. Clin Genet. 1987 Jan.

Abstract

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.

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