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
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
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