A local two-month-old baby has a road full of unknowns ahead of her after being diagnosed with a rare genetic condition. Kira ...

A couple are raising awareness of a rare genetic disorder after their daughter was diagnosed with Cri du Chat. Baby Margo did not cry when she was born and instead only made small whimpering sounds, ...

A male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5 (46,XY,rec(5), dup q,inv(5)(p15.1q35.1)pat) is reported together with the oral ...

When Lakewood resident, Laura Castillo found out in 1987 that her newborn daughter, Katie, was born with a rare chromosomal disorder, she didn’t know where to turn. “It was really, really hard,” ...

UK broadcaster Jo Whiley talks to disability campaigner Nicola Clark about growing up with her sister Frances, who has cri du chat syndrome, a rare genetic disorder.