Tag Archives: mosaicism

Josephine’s Symptoms

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OK.  We are done with all the tests to determine how Josephine has been affected by Tetrasomy 8p.

As of December 30, 2009, here’s where we stand so far..

  1. Hypoplastic left first rib
  2. Assymetry of left side of rib cage – ribs flair out
  3. Agenesis of the Corpus Callosum
  4. Hypotonia
  5. Speech delay – at 16 months old, her developmental age is 6 months
  6. Cognitive delay – developmental age is 7-8 months
  7. Gross motor skill delay – developmental age is 6 months
  8. Fine motor skill delay – developmental age is 6 months
  9. Pelvic kidney on left
  10. Failure to thrive – recent weight gain was 3 oz. in 4 weeks (1/2010)
  11. Prone to future seizure activity
  12. Epicanthic folds on eyes
  13. Flat bridge of the nose
  14. Slight cupping of the ears
  15. Trigger finger on right index finger
  16. Exotropia of the eyes (mild case)
  17. Retnal development is good and not affected
  18. Excellent heart, lungs and liver
  19. PERFECT IN EVERY WAY!

We are not alone.

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I found a wonderful web site, http://www.chromodisorder.org/CDO, Chromosome Disorder Outreach.  Through this site, I found a wonderful family in Iowa that has a 3-year old with the almost identical diagnosis as Josephine, so they have been our lighthouse in the storm!  Their daughter is the 13th documented case at this point.  Her mom and I have been emailing and we are so blessed to have found another family!  Their daughter is doing very well and certainly much better than the doctors told them she would do.

So, as our geneticist and counselor have said, Josephine is her own research project, just as this 3-year old girl is her own.  When we find more cases, more doors will open to the mystery of Tetrasomy 8p Mosaicism.