Genetic Disorder - Pediatric Oncall

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

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	Specialist Answers
Question Category : Genetic Disorders
I am 18 weeks pregnant and was just told my baby boy has a single umbilical artery. The doctor wants to check me again at 22 weeks. The baby's weight is at 1/2 pound right now and the doctor wants him to grow for a better scan (I guess). I'd like to know where I can get reliable information on this. I can't seem to find any articles that agree with each other. Is my baby going to have a birth defect because of this? What are the odds? The doctor told me it was 99% that he would be fine but everything I have seen online is putting it more at 50%. My doctor is a Maternal Fetal Specialist and I believe he wouldn't lead me on, but is this more serious than I was led to believe? I just want to be prepared if my baby need special attention. What kind of defects are most common and where can I find information on that? Thank you for your prompt reply Check Out the Answer
Question Category : Genetic Disorders
My daughter's karyotype is 45X. What does this mean and how does it effect her? Check Out the Answer
Question Category : Genetic Disorders
I have a question about the testicles and scrotum. Is it abnormal, or bad if the right testicle is the one that dropped? I heard the left is the one that normally drops. Not only that, but the scrotum and testicles don't seem very large. Compared to most other guys in the locker room, my scrotum is much smaller. It barely even hangs. Sometimes it does not hang at all. Thanks for helping out. Check Out the Answer
Question Category : Genetic Disorders
I would really like to know some detailed information about Lesch Nyhan Syndrome, thanks Check Out the Answer
Question Category : Genetic Disorders
SUMMARY "We have a 9 months old baby girl, she have a problem for Excess Ammonia in blood. This is diagnose at when she have age only 4 days after the 1 1/2 month we have started a special milk product which have protein free to over come the Ammonia level, after some time it is diagnose that she have a UREA CYCLE DEFECT. And now till today we are giving low protein food or very low protein. Q 1: Is this defect is common, what is the ratio? Q 2: Is this defect are removable? If yes then how long and what is the standard medical treatment? Q 3: Is any medicine are available for removing this defect and for maintaining good level of Ammonia considering that we will give good protein food to this baby? Q 4: What is the future of this baby I mean she is only 9 months old and she has a very big up coming life? Check Out the Answer
Question Category : Genetic Disorders
Q.1. We have child with the age of 9 months, she have problem inborn for Excess Ammonia level, Is any medicine available for decrease Ammonia level in the blood, considering we are maintained Ammonia level my food like low protein diet ? Q.2. What is her future? Check Out the Answer
Question Category : Genetic Disorders
I am trying to find a medical name or term for a birth condition where a child (female) is born without the 6th chromosome. Can you give me more specific guidance? Thank you so very much. Check Out the Answer

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