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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...

Topics

Abnormalities, Multiple
Alleles
Brain
Child, Preschool
Chromosomes, Human, Pair 17
DNA, Satellite
Female
Gene Deletion
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Karyotyping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Polymerase Chain Reaction

Polymorphism, Genetic

Syndrome

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7634541-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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

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Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.Semantic proximity Read ↗

Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.Semantic proximity Read ↗

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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.Semantic proximity Read ↗

Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.Semantic proximity Read ↗

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.Semantic proximity Read ↗

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Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker SyndromeSemantic proximity Read ↗

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