Our life, our experience, our history, about my daughter with a rare chromosome disorder. She is missing a small portion of her 8th chromosome, which is called a deletion. She also has a small part of XP added to that. Her karotype or diagnosis is deletion 8p23.3 with extra xp22.2 to the terminal deletion (a new chromosome test summer 2011 changed her karotype to deletion 8p23.2 with extra xp 22.12, essentially meaning more missing chromosome 8 and more added xp). #herrarelife
Good news... Cardiologists did agree that her aortic side is dilated, but think there's no need to close the hole in her ASD at this time. And we should follow up in 2 years for a reevaluation.
