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Wolf-Hirschorn syndrome

 

Gene Reviews

A chromosome disorder due to a partial deletion of the short (p) arm of chromosome 4. It is therefore also called the 4p- syndrome. Features of the syndrome include widespaced eyes, broad or beaked nose, cleft lip/palate, low simple ears with a dimple in front of the ear small and/or asymmetrical head, heart defects, and seizures which tend to diminish with age. There is severe to profound developmental and mental retardation.

Many cases of Wolf-Hirschorn are due to newly occurring partial deletions of the short (p) arm of chromosome 4. Yet in other cases, one of the parents has a balanced chromosome rearrangement involving chromosome 4p from which the child's 4p- is derived. Parents of 4p- children should therefore have chromosomes studies themselves.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code: Q93.89

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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