Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are ...

Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are ...

In a nutshell Scientists identified 473 “switch-like” genes that act more like on/off light switches than dimmers — either fully active or completely silent. These genetic switches are linked to risks ...

After an abnormal NIPT finding in a pregnant woman, a maternal-fetal medicine doctor orders a second NIPT, against recommendations.

Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning ...

Risk Factors Turner syndrome is not something that is inherited from families, but is the result of genetic changes that occur by chance. Therefore, there are no specific risk factors that can ...

Turner syndrome is a chromosomal disorder that affects females only. Read about its causes, signs, diagnosis, treatment, and possible complications.

If your doctor suspects that your child has Turner syndrome, a genetic test will typically be done to analyze their chromosomes. (4) This test is usually done with a blood sample, although your ...

Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era ...

Dr. Hurst is a physician for the UAB Undiagnosed Disease program, Turner syndrome clinic, and general genetics clinic, and she provides hospital consultations for inpatients at UAB and Children ...