Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays or birth defects. Diagnosis of<unk>  is usually made via a blood sample. A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by microarray analysis. Increasingly, microarray analysis is also being used to clarify breakpoints. Prenatal diagnosis is possible via amniocentesis of chorionic villus sampling. MRI In some children without "classic" holoprosencephaly, microforms of holoprosencephaly may be noted on MRI, including missing olfactory tracts and bulbs and absent or hypoplastic corpus callosum.
18p-
RUB A535
ZF2001
714-X
Rc-o319
MIS416
SOS box
T-47D