Click Here to return To Results

 

Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 1993 See this aricle in Pubmed Article Abstract Molecular cytogenetic technology should be used in cases of suspected Miller-Dieker syndrome when high-resolution cytogenetic analysis fails to detect del(17)(p13.3).Positive findings should be followed up with parental studies.In addition,omphalocele should be included among the list of malformations that make up the Miller-Dieker syndrome.

Related Tags

(click to filter results - removes previous filter) chromosomal abnormality congenital malformation gene in situ hybridization lissencephaly malformation,CNS,congenital microcephaly Miller-Dieker syndrome molecular genetics omphalocele prenatal diagnosis by amniocentesis

Click Here to return To Results