Wednesday, March 12, 2014

Mosaic Trisomy 22 Symptoms

Posting this in an attempt to shed a bit of light on some-SOME-of the many different traits/symptoms that Chloe could potentially have. She could have one, three, none, all...most likely not all, but still we will not know the extent of how many cells her mosaicism affects until she's born. The following list was compiled by a friend on a facebook group we've joined-this is from her blog. If I could find a simple list like this on a medical site, I would share that link, but alas, seems parents of those with MT22, or those who have it themselves, are the best researchers...

What to expect:

(The research I have obtained about Mosaic Trisomy 22)

Mosaic Trisomy 22 is a rare chromosome disorder in which the 22 chromosome is present 3 times. The typical chromosome would have only 2 cells in it. The severity of this chromosome disorder will vary depending on how many cells throughout the body will obtain these mosaic chromosomes. Here is a list of some clinical features that have been recorded in Mosaic Trisomy 22 patients:

- Microcephaly
- Abnormal Ears
- Webbed Neck
- Cardiac Abnormalities (Such as Chloe's heart condition)
- Long Fingers
- Kidney Problems (Missing, Extra, or Underdeveloped)
- Growth Retardation
- Shortened Limbs
- Mental Delay
- Hemidystrophy (abnormal development of each side of the body)
- Drooping Eyelids
- Elbow Malformations
- Abnormal or/ missing fingers/ toe nails
- Absent Ovaries/ fallopian tubes
- Underdeveloped ovaries


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