Sindrom cri du chat adalah salah satu sindrom genetik langka yang bisa terjadi pada bayi. Ini bisa ditandai dengan suara tangisan bayi yang melengking. Baca selengkapnya di sini.

A genetic screen can potentially diagnose more than 1,200 genetic disorders and chromosomal abnormalities. If you were a medical geneticist, how would you pick the best test for your patient?

Six-year-old Ciarán Curran is one of just 12 people in the world living with a rare chromosomal deletion disorder ... developmental delays, unique facial features, and bleeding disorders due ...