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Lobar holoprosencephaly and Xq22 deletion. |
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| Authors: | P Petit P Moerman J P Fryns |
| Institution: | Center for Human Genetics, University of Leuven, Belgium. |
| Abstract: | A 20 weeks gestation female fetus with a lobar holoprosencephaly and Xq22 deletion is described. The phenotype correlation of the cerebral defect with the facial features is positive. On the contrary phenotypic-karyotypic correlation is non obvious. |
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