The Girl With Gap

Story of the minus X chromosome

TURNER SYNDROME

Turner syndrome is a chromosomal disorder that affects development in females. Yes, you heard right. This disorder makes their life miserable. It’s results when female cells have one normal X chromosome and the other one us missing or structurally altered. Female with out Turner syndrome have two normal X chromosome in each cells and male have one X and one Y chromosome.

Signs And Symptoms :

It’s may include short stature, premature ovarian failure, a webbed neck, a low hairline at the back of the neck, and swelling ( which is called lymphedema) of the hands and feet. Sometimes people with Turner syndrome, have skeletal abnormalities, kidney problems, and congenital heart defects. Most affect girls and women have normal intelligence, but some have developmental delays, learning disabilities and behavior problem.

What Are The Causes?

It is still unclear exactly which genes in the X chromosome are associated with each feature of Turner Syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this genesis thought to result in the short stature and skeletal abnormalities in many affected women.

Other Names Of This Syndrome:

Some of these called Ullrich- Turner syndrome, Bonnevie-Ulrich syndrome, 45, X chromosome, chromosomes X Monosomy X , Gonadal Dysgenesis (45,X), Schereshevki Turner syndrome, Turner vary syndrome.

How To Diagnose This Syndrome :

It is diagnose by genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. This test requires a blood draw. It can determine whether one of the X chromosomes is fully or partially missing. A complete heart evaluation is also part of diagnosis.