Stories about: karyotype

A better genetic test for developmental disabilities

David Miller, MD, PhD
David Miller, MD, PhD

Traditional genetic testing identifies chromosomal duplications or deletions in about 3 percent of children suffering from unexplained developmental disabilities. Now, using a cutting-edge tool called a chromosomal microarray, physicians can increase that number to about 15 percent – giving answers to potentially tens of thousands more children.

More than 3 percent of children are born with developmental disabilities that have no obvious cause. These children often baffle physicians because medical history and a physical exam are just not always enough to diagnose them. “When we see a patient, we go down our checklist of the usual suspects,” says David Miller, MD, PhD, clinical geneticist in the Division of Genetics at Children’s Hospital Boston. “If we get to a point where we still can’t put our finger on anything, that’s when we turn to this type of testing.”

There are hundreds of chromosome deletions or duplications that result in birth defects or developmental disabilities such as autism. By zeroing in on the exact cause, physicians may be able to determine which specialists need to be added to the team and how best to treat them.

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