At the beginning sorry for my English but not speak it fluently.
My name is Joanna. I`m from Poland. I have a question, and I would be very grateful for your reply. I am a mother of nine month-old son. A child born in the 39 weeks of gestation, the forces of nature, has 9 points in the scale Appgar. After birth, was diagnosed with a congenital heart defect. The doctors noticed dysmorfism features of the face, decreased muscle tone, underdeveloped penis, foot clubfoot. The child has undergone heart surgery. In the meantime, has been done to assess its karyotype, which showed chromosomal aberration. Then performed additional testing of the child, my husband and the FISH method, after which his son was found in the following drawback: 46, XY, der(6)t(6;8)(p25;p22)pat. Unfortunately, the geneticists could not tell us what are associated with this defect. Overall, we were informed that at present aberracjach facial dysmorphism, congenital anomalies and developmental delay. After some time the doctor suggested us to make a study of the clinical use of microarrays CGX-12. We were told that after this trial the doctors determine exactly which genes have been translocated, and then it will connect in the case of our son. We waited for the results of 5 months. In the end we had an appointment at the clinic and what we heard? The fact that doctors do not tell us! I must admit that I am disappointed because we were promised some interesting results. I do not understand why doctors can not say anything, since geneticists know which genes are on different chromosomes, and for which those genes are responsible. For me it is not logical.
We have received just such a result: the genetic material was considered a change of the nature of chromosome aberrations (deletions and duplications). Change is detected at the terminal deletion of chromosome pair 6 (region 6p25.3 - 6p25.1, the size of deletions - 5.20 - 5.23 Mb, according to genomic position HG18 128,203 - 5,462,343) and a terminal duplication of chromosome pair 8 (region 8p23.3 - 8p22, the size of duplication - 15.26 - 15.49 Mb; genomic position by HG18: 192262 - 15451730). Submicroscopic chromosome rearrangements are a frequent cause of intellectual disability, behavioral disorders and congenital malformations. The test result confirms the genetic link of the disease. ACGH study using the NimbleGen 135k chips CGX-12 allows the identification of changes submicroscopic located in regions of the genome rich in genes of more than 20 - 100 kb.
That's why I write here. Looking for any information found on the web results (except U.S.), which described patients with similar defects. I must admit that this article I learned a lot more than the doctors. Can You help me? Please….
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