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FISH for Turner syndrome

 

This is a genetic disorder affecting only females. The patient may have one X chromosome in some or all cells or has two X chromosomes but one is damaged. Women with Turners are usually infertile due to ovarian failure.

Individuals with Turner syndrome may have a short neck with a webbed appearance, short stature, delayed growth of the skeleton, and low-set ears. Hands and feet of affected individuals may be swollen or puffy at birth, and often have soft nails that turn upward at the ends when they are older. All these features appear to be due to obstruction of the lymphatic system during fetal development.

Turner syndrome embraces a broad spectrum of features, from major heart defects to minor cosmetic issues. Some individuals with Turners may have only a few features, while others may have many. Many people with this disorder have short stature and loss of ovarian function, but the severity of these problems varies considerably among individuals.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis/Prenatal Diagnosis

ICD-10 Code Q96.9

Test Requisition: Cytogenetics Requisition

Turn-around-time: 2 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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