The Human Side of Chromosomal Mutations

Some genetic diseases are so rare that only a handful of children have been diagnosed, often through microarray analysis. The New York Times chronicles how a few families searched for other people dealing with diseases known only by what part of the chromosome is affected, such as 16p11.2, 7q11.23, 22q13, or as a microdeletion of 16p11.2 through p12.2. They then met up to share their experiences. One parent found that looking at the children together made him think about how such small DNA changes can impact people so heavily.

It's a nice human interest story with slight genomic touch.