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Smith-Magenis syndrome

 

Gene Reviews

A syndrome of abnormal physical, developmental and behavioral features due to microdeletion of chromosome 17. Facial features such as a short flat head, prominent forehead, broad square face, upslanting eyeslits, deep-set eyes, broad nasal bridge, short nose, tented upper lip, and a chin that is small in infancy and becomes relatively prominent with age. In infancy there are feeding problems, failure to thrive, hypotonia, prolonged napping and lethargy. Later in childhood and adulthood there is mild to moderate mental retardation,attention deficit disorders, hyperactivity, frequent temper tantrums, disobedience, aggression, toileting difficulties, and self-injurious behaviors including self-hitting, biting, and skin picking.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code Q93.88

Test Requisition: Cytogenetics Requisition

Turn-around-time: 10-14 days

Specimen Requirements

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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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