Guest guest Posted July 2, 2012 Report Share Posted July 2, 2012 When my son had the Genetic Microarray cgh, it showed  partial trisomy on Chromosome 16......this area has many important genes, the geneticist told us , and so he and the hematologist and immunologist and other specialists are attributing his Chronic Neutropenia, his Immune Deficiency, thrombocytopenia, malfunctioning cilia in his respiratory tract, his seizure disorder, his syringomyelia, the adrenal insufficiency, the myopathy and ophthalmoplegia, short stature ....all to this chromosomal abnormality.....  Signature Genomics wrote a letter to the geneticist recommending " Genetic Counseling and Family Planning for this family " ...(that's how they wrote it)  ...That was all moot, anyway, because my husband had passed away before e had the genetic tests...very sad....don't know if my husband also had the Partial Trisomy and that's why he had so many health problems....but they tested me and I was normal all Chromosomes......Geneticist said it is possibly de novo, but we'll never know....I just thank God I have my precious boy, he is my life.......sue > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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