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….
I share in your frustration. I have a now four year old who was born early. 5 weeks she was 8'2 and 17 in she came out very dark perhaps stayed in canal too long but was no other signs of any problems. I breastfed but got sick a bit so she had to be on bottle she became violently ill projectile vomiting the Doctors admitted her and tests were done so many test nothing came back why this was happening trying all types of milks even soy nutramagin. Finally I was cleared to begin breastfeeding her again and she stopped. She completely recovered leaving doctors baffled until about 6 months old I noticed she was not developing normal. I startedbaby food and projectile vomitting came back with a vengeance She was diagnose as failure to thrive became so ill she spent more time inpainent at Duke diagnosed with this and that then told no that is why sent home overage over with no answers Doctors said they didn't know but keep doing what I was doing. One time there an it saw her and wanted to do a swallow test turned out she was inhaling food and drink and causing her to develop pneumonia. After hearing that the hematologist told us she had neutropenia which meant no immunity to fight illnesses anytime she gets a fever she must be hospitalized. So if she ate or drank it would turninto pneumonia and after using an antibiotic a body would build immunity to it and eventually be useless on top of that the geneticist came and told us they found a genetic abnormality a small deletion Chromosome 1q21.1 however they didn't know what it was or y she had it. No information. What to expect
keep pushing for answers and demand them really from your doctors,my daughters have a rare genetic syndrome goldberg and shprintzen syndrome and i lost one of my girls at four years old 14 years ago,my daughter now is 16 but has muscle disease and so many other complications.she has 22q11.2 and im still searching for answers,there is to much to go into but if you want to talk il be here to listen and help in any way i can best wishes
Thank you very much for your replies. I will do my best to learn as much about her son's disease. I also hope that, apart from a congenital heart defect, which is nothing more the doctors did not detect. I greet you warmly.
Hello. Thank you for your reply. I do not have the forces to search for answers ... I'm worried for the development of my son. He has 10 months and not sitting still. Shakes his head, though this is already better than it was. How to develop your children?
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