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Miller-Dieker syndrome

 

OMIM

A congenital malformation syndrome characterized by lissencephaly (smooth brain) and facial appearances such as a prominent forehead, short nose with upturned nares, thickened upper lip, widely spaced eyes, low ears, and small jaw. Associated features include mental retardation, epilepsy, and reduced life span. There may also be multiple abnormalities of the brain, kidneys, heart, and gastrointestinal tract.

MDLS is a contiguous gene syndrome. It is due to deletions of several adjacent genes from 17p (the short arm of chromosome 17). The syndrome is named for JQ Miller who described it in 1963 and H Dieker who in 1969 emphasized that it should be termed the lissencephaly syndrome because there are malformations beyond the brain.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis/Carrier Testing

ICD-10 Code Q93.88

Test Requisition: Cytogenetics Requisition

Turn-around-time: 10-14 days

Specimen Requirements

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Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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