Kelainan langka trisomi 13 atau Sindrom Patau bisa dialami sejak bayi di dalam kandungan. Lantas, bisakah kondisi ini dicegah?

Scientists from Johns Hopkins Medicine and eight other institutions in the United States, Africa and Europe say they have ...

Medically reviewed by Brigid Dwyer, MD Mosaic Down syndrome is a variant of Down syndrome. Down syndrome is a congenital (present at birth) genetic condition that occurs when a person has three copies ...

What can Gregor Mendel’s pea plants tell us about human disease? Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns.

I gave birth to a beautiful baby girl with almond shaped eyes,” a woman named Sarah wrote on Cincinnati Children’s Hospital’s website. “The doctors and nurses didn’t notice, but I did. After days of ...

Scientists at deCODE genetics/Amgen have identified associations between bipolar disorder and rare loss-of-function variants ...