Hi,I am Dr. Shivaprasad C (Endocrinologist). I will be looking into your question and guiding you through the process. Please write your question below.
My daughter recently had some chromosone testing done, they have found an "issue in her 11th chromosone on the 14.1 band...what does the 11th chromosone do in the body? She has been diagnosed with hyper joints, hypotonia and an expressive speech delay..is there a connection?
Welcome to HCM this is Dr Amit. As per me as your daughter having problem with 11th number of chromosome but you have not mentioned that whether it is deletion or duplication but from the presentation it seems your daughter is having Jacobsen syndrome which is a condition caused by a loss of genetic material from chromosome 11 with or without autism as she having delay in expressive speech delay too. I will suggesst you to take special advice from the genetic specialist. He/She will guide you regarding the case Feel free to ask if you have any other query Regards
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What Does 11th Chromosome Do In The Body?
Welcome to HCM this is Dr Amit. As per me as your daughter having problem with 11th number of chromosome but you have not mentioned that whether it is deletion or duplication but from the presentation it seems your daughter is having Jacobsen syndrome which is a condition caused by a loss of genetic material from chromosome 11 with or without autism as she having delay in expressive speech delay too. I will suggesst you to take special advice from the genetic specialist. He/She will guide you regarding the case Feel free to ask if you have any other query Regards