Lobar holoprosencephaly and Xq22 deletion.
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.
Petit
P
P
Center for Human Genetics, University of Leuven, Belgium.
Moerman
P
P
Fryns
J P
JP
D000028:Abortion, Induced; D001921:Brain / Q000002:abnormalities*; D002872:Chromosome Deletion; D005145:Face / Q000002:abnormalities; D005260:Female; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D014960:X Chromosome