Sunday, 14 August 2011

A Strange Genetic Journey

I’ve just had a long conversation on Skype with a pleasant & well-informed Dutch guy whose wife & son carry the same chromosome deletion as Chrissy. He gave me a potted family history that struck a spooky chord. Although Chrissy’s deletion is de novo (maternal origin), our families share more than a coincidental number of characteristics.

The man's wife was born with a squint – the first sign of a possible genetic problem. I was too, & had corrective surgery. Her dad had one leg about 1½-2 inches shorter than the other, like me. Due to investigations into ongoing back problems, I’ve discovered that I also have subtle ‘skeletal abnormalities’ in my spine that are connected to the leg length discrepancy. There are other similarities in our family history that have made me want to explore this further - maybe with a research scientist who has a particular interest in 1q21.1 anomalies.

It makes me wonder how 'de novo' the effects of some of these rare chromosome disorders really are - or am I reading too much into a series of coincidences?

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