Clinical and molecular diagnosis of Miller-Dieker syndrome.

Article

Clinical and molecular diagnosis of Miller-Dieker syndrome.

American journal of human genetics - 1 Mar 1991

Dobyns W B, Curry C J, Hoyme H E, Turlington L, Ledbetter D H

Abstract excerpt

We report results of clinical, cytogenetic, and molecular studies in 27 patients with Miller-Dieker syndrome (MDS) from 25 families. All had severe type I lissencephaly with grossly normal cerebellum and a distinctive facial appearance consisting of prominent forehead, bitemporal hollowing, short...

Topics

Brain
Cell Line
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 17
Facial Expression
Humans
Infant, Newborn
Phenotype
Polymorphism, Restriction Fragment Length
Radionuclide Imaging
Tomography, X-Ray Computed

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