Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate ...

Mutations in the X chromosome often cause intellectual disability, and women born with just one X chromosome (a diagnosis ...

A mother-of-four from Cradley Heath, near Birmingham, has spoken of her two-year-old daughter's diagnosis with an extremely rare disorder, discovered by chance during an unrelated hospital visit.

X chromosome reactivation contributes to reducing the signs of disease in the female brain. Female cells have two X ...

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's. The Parkinson's disease 2 (PARK2) ...

Women are born with two X chromosomes and inherit one from each parent. But in every cell of their body, just one X chromosome is needed – so the other is randomly inactivated. Some cells use only a ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.