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Article

Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.

Clinical genetics - 1 Mar 1995

Köhler A, Hain J, Müller U

Abstract excerpt

Five patients with type 1 lissencephaly, typical features of Miller-Dieker syndrome and apparently normal karyotypes were investigated for microdeletions in chromosome 17p13.3. Analysis of loci D17S5 and D17S379 by polymerase chain reaction and fluorescence in situ hybridization revealed a deletion in three cases. No deletion was observed in the remaining two cases. Given the almost identical clinical picture of...

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Identifiers

PMID: 7634541
DOI: 10.1111/j.1399-0004.1995.tb03951.x

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Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.PMID 7634541Read ↗

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