Hi,I am Dr. Shanthi.E (General & Family Physician). I will be looking into your question and guiding you through the process. Please write your question below.
I suffer from a rare illness called pallido ponto nigral degeneration which is caused by an n279k mutation on exon 10 chromosome 17 and was wondering ifyou have any advice for treatment on how to inhibit ... View answer
Answered by :Dr. Chobufo Ditah
( General & Family Physician)
My daughter who is 23 years of age has been told she has a rare kidney disorder that she was born ... rare disorder something to worry about as she has 3 small boys and currently quite healthy. ... View answer
Answered by :Dr. Sree Bhushan Raju
( Nephrologist)
a very rare tau aggregation illness called Pallido Ponto NIgral Degeneration caused by an N279k mutationon exon 10 chromosome 17. I would love to know what could possibly inhibit this tau aggregation. I ... View answer
Answered by :Dr. Chakravarthy Mazumdar
( General & Family Physician)
to have an amniocentesis performed, both my husband and I were "neg" for all Chromosome defects, I was just told that my baby has a Chromosome 9 transition, not a deletion, what is this and should I ... View answer
Iam amutha,during my first prenancy,in 6th month I terminated my baby due to abnormalities. then u consulted a genetician ,they said to take karyotype chromosome blood test. the result of cytogenetic report ... View answer
Answered by :Dr. Shailja Puri
( Pathologist and Microbiologist)
My son have a rare genetic disorder.. derivative #7 Chromosome, monosomy 7p22.3 and partial trisomy 11q22.3.. When he tries to make a bowel movement, his body tenses up and he vomits all of his food.. He ... View answer
Answered by :Dr. Bhagyesh V. Patel
( General Surgeon)
Hi. My daughter has a rarechromosome duplication of 17q 11.1-11.2. It has cause developmental delays I m speech, fine motor skills, and gross motor skills. She is also behind cognitively. She is 8 ... View answer
Hi I have a son with a rarechromosome disorder and also was born with duplex kidneys and bilateral reflux which is said to have stopped! He doesn t talk just babbles and is 3.6 yrs, I ve noticed past 6 ... View answer
Answered by :Dr. Antony Robert Charles
( Pediatrician)
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