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Genetic Linkage

The Battle of the Prenatal Tests

(credit: NHGRI)
The young couple looked at me expectantly as I re-read the amnio report and tried to decide what to tell them.

“The ultrasound from 15 weeks looks fine,” I stalled, trying to present the good news first.

“What about the amnio?”

“Well, there is something unusual. It’s the Y chromosome. Part of it appears to be flipped. What we call an inversion. It’s a little like if the exits on a highway turned around,” I explained.

The couple looked at each other, puzzled, then back at me, and he reached for her hand.

“What does that mean?” they both asked. Read More 
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Older Dads Have More Mutations

As a genetic counselor, I hate telling a woman over 35 that she’s of “advanced maternal age,” which raises the risk of conceiving a child who has an extra chromosome. Now older men are in the reproductive spotlight too.

Since the nineteenth century, physicians have noted that Down syndrome babies tend to be the  Read More 
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