Learning more about genetic disorders will help you to understand the pathogenesis of many medical conditions associated with chromosomal abnormalities or genetic defects.
Absolutely loved this! For the last 6 months I have been reviewing genetic testing cases for an insurance company. I've been doing a lot of self education on each case/syndrome, but this helped me put more of the pieces together. Thanks!
PWS is caused by lack of the paternal segment 15q11.2-q12. Basically, there are 2 mechanisms by which such a loss can occur: either through deletion of just the paternal 'critical' segment or through loss of the entire paternal chromosome 15 with presence of 2 maternal homologs (uniparental maternal disomy)
excellent tutorial, thanks. I actually lost two female child at individual occasions. We have done kareotype of 2nd and it appeared normal. Should we done kareotype of me and my wife? My both child were affected with hypotonia from birth and did not able to breath properly. Any other test you suggest that can tell which copy can affect child, i.e. from mother or father?
I am really sorry about your loss, It is really important to know more details in order to understand the problem, for example, if any abnormal facial features or structural abnormalities suggesting syndromic cause, was the hypotonia peripheral or central?, at what age they died. Genetic testing can be helpful, but the most important to know what you are looking for, simple karyotype may not detect many genetic diseases, sometime you may need microarray, also not all causes of hypotonia are genetic.
thank you so much for the comment, it will really help us for the future child planning. First one died after 4 days and 2nd after 8, both babies had very rare movement. As per doctor reason for death was respiratory failure because of muscle weakness. After removing ventilator babies were unable to breath, It wasn't because of prematurity but because of muscle weakness. can you please let me know what other causes of hypotonia? Reason is our kareotype report came yesterday and it's negetive. means nothing unusual has been detected.
SMA type I - Acute infantile or Werdnig-Hoffman diseasePatients present before 6 months of age, with 95% of patients having signs and symptoms by 3 months. They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia). Bulbar dysfunction includes poor suck ability, reduced swallowing, and respiratory failure. Patients have no involvement of the extraocular muscles, and facial weakness is often minimal or absent. They have no evidence of cerebral involvement, and infants appear alert. Reports of impaired fetal movements are observed in 30% of cases, and 60% of infants with SMA type I are floppy babies at birth. Prolonged cyanosis may be noted at delivery. In some instances, the disease can cause fulminant weakness in the first few days of life. Such severe weakness and early bulbar dysfunction are associated with short life expectancy, with a mean survival of 5.9 months. In 95% of cases, infants die from complications of the disease by 18 months.
+doctorromy1 Thank you for your inquiry, I do not have any information about the Arab Board examination. This book originally designed for the pediatrician who are trying to pass and studying for the American Pediatric Board examination. The best is to ask the people who already passed the Arab Board exam and their experience for the best resources.
+PEDIATRIC BOARD A LAST MINUTE REVIEW Here is the link for 81 pages to review on Google books to see if the book will match your style of studying or not. books.google.com/books?id=Mpe1BwAAQBAJ&pg=PA14&source=gbs_selected_pages&cad=3#v=onepage&q&f=false
+PEDIATRIC BOARD A LAST MINUTE REVIEW Also here is the link on Amazon. Try for free. www.amazon.com/Pediatric-Board-Study-Guide-Minute-ebook/dp/B00VBEZ428/ref=mt_kindle?_encoding=UTF8&me=
Great information video
Absolutely loved this! For the last 6 months I have been reviewing genetic testing cases for an insurance company. I've been doing a lot of self education on each case/syndrome, but this helped me put more of the pieces together. Thanks!
You are very welcome! Thank you very much for your kind note.
شرح رائع جدا وعظيم........... استمر... الله يوفقك للابداع ...
Excellent beautiful presentation.
Thank you so much for nice video.
Nice... thanks .. we wait next part
thank you so much for the great video 😀
Beautifully explained. Ty.
Thank you!
I finally understand chromosomal abnormalities. Thank you sir
thank you doctor for great explanation
Thank you for the amazing video, we appreciate your efforts
So nice of you
Very nicely explained
woooo dr its really brilliant video thank you so much
Most welcome 😊
PWS is caused by lack of the paternal segment 15q11.2-q12. Basically, there are 2 mechanisms by which such a loss can occur: either through deletion of just the paternal 'critical' segment or through loss of the entire paternal chromosome 15 with presence of 2 maternal homologs (uniparental maternal disomy)
Thanks this was great
thank you
Thank you very much ..
Thank you!
excellent tutorial, thanks. I actually lost two female child at individual occasions. We have done kareotype of 2nd and it appeared normal. Should we done kareotype of me and my wife? My both child were affected with hypotonia from birth and did not able to breath properly. Any other test you suggest that can tell which copy can affect child, i.e. from mother or father?
I am really sorry about your loss, It is really important to know more details in order to understand the problem, for example, if any abnormal facial features or structural abnormalities suggesting syndromic cause, was the hypotonia peripheral or central?, at what age they died. Genetic testing can be helpful, but the most important to know what you are looking for, simple karyotype may not detect many genetic diseases, sometime you may need microarray, also not all causes of hypotonia are genetic.
Thanks.
thank you so much for the comment, it will really help us for the future child planning.
First one died after 4 days and 2nd after 8, both babies had very rare movement. As per doctor reason for death was respiratory failure because of muscle weakness. After removing ventilator babies were unable to breath, It wasn't because of prematurity but because of muscle weakness.
can you please let me know what other causes of hypotonia? Reason is our kareotype report came yesterday and it's negetive. means nothing unusual has been detected.
SMA type I - Acute infantile or Werdnig-Hoffman diseasePatients present before 6 months of age, with 95% of patients having signs and symptoms by 3 months. They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia). Bulbar dysfunction includes poor suck ability, reduced swallowing, and respiratory failure. Patients have no involvement of the extraocular muscles, and facial weakness is often minimal or absent. They have no evidence of cerebral involvement, and infants appear alert.
Reports of impaired fetal movements are observed in 30% of cases, and 60% of infants with SMA type I are floppy babies at birth. Prolonged cyanosis may be noted at delivery. In some instances, the disease can cause fulminant weakness in the first few days of life. Such severe weakness and early bulbar dysfunction are associated with short life expectancy, with a mean survival of 5.9 months. In 95% of cases, infants die from complications of the disease by 18 months.
Spinal Muscular Atrophy or SMA is one of the causes
thank you sooooo much. v.nice presentation.
may ask you to do one on how to calculate the probability in pedigree.I couldn't understand.plz help
You are very welcome. If the time allow I'll do. Thanks.
Is there any transcript of your lectures, sir?
❤️❤️❤️❤️
thanks very much doctor Osama, let me ask you if this book and series could help me passing Arab board exam ?
+doctorromy1 Thank you for your inquiry, I do not have any information about the Arab Board examination. This book originally designed for the pediatrician who are trying to pass and studying for the American Pediatric Board examination. The best is to ask the people who already passed the Arab Board exam and their experience for the best resources.
+PEDIATRIC BOARD A LAST MINUTE REVIEW Here is the link for 81 pages to review on Google books to see if the book will match your style of studying or not. books.google.com/books?id=Mpe1BwAAQBAJ&pg=PA14&source=gbs_selected_pages&cad=3#v=onepage&q&f=false
+PEDIATRIC BOARD A LAST MINUTE REVIEW Also here is the link on Amazon. Try for free. www.amazon.com/Pediatric-Board-Study-Guide-Minute-ebook/dp/B00VBEZ428/ref=mt_kindle?_encoding=UTF8&me=
+PEDIATRIC BOARD A LAST MINUTE REVIEW Thank you very much prof.Osama
Hi Dr.
Which consultant should i consult for Genetic Disorder...
Pediatric genetics/metabolic specialist.
This is a awesome video you explain it well, thanks
Glad it was helpful!
@@pediatricboardalastminuter1892 I did pass my finals test because of this,, thank you very much
thank you so much 😀
My Karyotype result is 46,XX,9qh+ it's effect on pregamcy sir.
Plz reply
Is the video useful for studying pathology of third year of medical?
I do not think these lecture will help you in the third year pathology. Its focused more on general pediatrics. Thanks.
@@pediatricboardalastminuter1892 thanks
what ur Facebook Dr Osama please
m.facebook.com/PediatricBoardReview/?ref=bookmarks
Isn't prader Willi associated with deletion of father's chromosome and passage of mother's and angelman vice versa