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Clinical and molecular genetic findings in five patients with Miller‐Dieker syndrome
Author(s) -
Köhler A.,
Hain J.,
Müller U.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03951.x
Subject(s) - lissencephaly , karyotype , biology , genetics , polymerase chain reaction , chromosome , gene
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 the five patients, the great variation in the molecular findings argues against Miller‐Dieker syndrome being a contiguous gene syndrome.