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Interstitial Duplication of 5p15.1

phagant Message
2 Feb 2011, 09:22 PM

My daughter, previously thought to have VCFS (velocardio-facial syndrome), was just diagnosed by micro array analysis with an interstitial duplication of 5p15.1. They are testing her father and me to determine whether it is de novo or inherited. Apparently, the outcome will provide more, useful information. I will share when I have that update. I will also update this with the break points of the duplication (I think that's what I'm missing). My daughter, 10 years old now, was born with multiple heart defects (bicuspid aortic valve, stenosis of the aortic arch, VSD). She has had 5 open heart surgeries to date. She also has severe velopharyngeal insufficiency (likely will have a pharyngeal flap surgery in the near future) with hypernasal speech. She had asymmetric crying facies at birth. Her FISH tests for deletion of 22q.11 were negative. She has a sacral dimple, but MRI of spine is fine. Her gross motor skills/coordination are "off", her gait is very stiff, and she runs with her hands held up at shoulder-height. She is cognitively very sharp - age appropriate math skills - and doesn't have any problems with social cues. An MRI of her brain shows several "white spots", but nothing brought to my attention as 'significant'. I'd love to hear from anyone who knows more about this.
phagant Message
4 Feb 2012, 02:44 AM

Update: I have the same microduplication that my daughter has. I do not show any symptoms.