Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

Abstract

Two patients with partial deletions of the long arm of chromosome 13, del(13)(13q21-q34) and del(13)(13q22-q33), respectively, multiple congenital anomalies including holoprosencephaly (HPE) and the Dandy-Walker malformation (DWM) are described. The occurrence of HPE and the DWM in both of these patients suggests that, in addition to ZIC2, which is… (More)

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@article{McCormack2002PartialDO, title={Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.}, author={William M. McCormack and Joseph Shen and Stacey M Curry and Sue Ann Berend and Catherine D. Kashork and Halit Pinar and Lorraine Potocki and Bassem A. Bejjani}, journal={American journal of medical genetics. Part A}, year={2002}, volume={118A 2}, pages={384-9} }