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FISH for Klinefelter syndrome

 

A chromosome condition in boys and men that is usually due to 47 chromosomes with XXY sex chromosomes. XXY is one of the most common chromosomal abnormalities.

Klinefelter syndrome is a common genetic cause of male infertility. However, this syndrome often remains undiagnosed because of the variation in clinical presentation and insufficient awareness of the syndrome itself. Clinical characteristics include small testes, insufficient production of testosterone, and infertility. XXY males are more likely than other males to show breast enlargement, have a lack of facial and body hair, and a rounded body type.

Klinefelter boys tend to have learning and/or behavioral problems more often than other boys. Early recognition and hormonal treatment of the syndrome can substantially improve the quality of life and prevent serious consequences. Testosterone replacement corrects the symptoms of androgen deficiency but it does not remedy the infertility.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis/Prenatal Diagnosis

ICD-10 Code Q98.4

Test Requisition: Cytogenetics Requisition

Turn-around-time: 2 days

Specimen Requirements

Shipping Information

References

Lee et al (2007). "Genital Anomalies in Klinefelter's Syndrome". Hormone Research in Pediatrics 68(3):150-155.

 

 

 



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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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