I had an exact question in the self assessment the disease was about achondroplasia the parents were normal and two children were affected thank you for your great content keep it up!!
Shouldn’t germline mosaicism occur before fertilization ? eg - a mother who has a mosaic of germline cells who can pass a gamete with a mutation on to the offspring who will develop the disease and somatic mosaicism will be after fertilization due to mitotic error in a somatic cell leading to a mosaic of somatic cells with the mutation and some without ? How can germline mosaicism occurs after conception?
Mosaicism occurs at zygote when there is error in mitosis. For example: Healthy parents, due to chromosomal non-disjunction the zygote ended up having trisomy 21, but due to error in mitosis and losing one of the extra 21 chromosome in one of the cells in zygote, some normal cells and some abnormal cells were formed. which would give birth to a baby with down's syndrome with mosaicism, which means the baby would have less severity of the disease, because he has normal cells and abnormal cells. Now to answer your question, for example from a person with mosaicism(lets say abnormal cells are trisomy 21) passing the abnormal cell through gamete to the zygote, and there was no error in mitotic division (which causes mosaicism), this would lead to a zygote with trisomy 21 simply. and the baby born would just be a typical down syndrome baby, with no mosaicism, because what reason does the baby have to have normal cells? if all the cells of the zygote are abnormal? the only way a person born can have mosaicism is if the zygote has normal and abnormal cells. If i still didn't clear your doubt feel free to ask.
THANKS A LOT MAM I UNDERSTOOD EVERYTHING BUT IS MOSAICISM AND GONADAL MOSAICISM TOPICS ARE SAME THING AS IN MY BOOK THERE IS ONLY WRITTEN MOSAICISM BUT FROM BOOK I HAVENOT UNDERTAND
In x linked recessive there must be Both (x ) affected with mutations that lead to transfer the disease to progeny which lead to cause it’s effects on somatic cell like hemophilia, G6PD .. and this type is inherited from both parents with two allele mutations….while in gonadal mosaicism it occurs in germline cell for the first time during gametogencis with negative family history to develop this disease..
This explanation is misleading as it implies that the affected child had normal parents when in reality, the affected child had parents that SEEMED normal because their mutation was confined to their germline cells.
@@brittophone6219 germline or gonadal mosaicism refers to mosaicism in the fetal gonads, and when they become parents their children may have the disease. If a child has such a disease, his/her parent would have gonadal mosaicism (as gonads show mosaicism, some children maybe normal, some may have the disease)
I had an exact question in the self assessment the disease was about achondroplasia the parents were normal and two children were affected thank you for your great content keep it up!!
Your videos are extremely helpful and informative
Thank U 💜
Then what if the mutation is in gamete’s ,,, what is it called?
Shouldn’t germline mosaicism occur before fertilization ? eg - a mother who has a mosaic of germline cells who can pass a gamete with a mutation on to the offspring who will develop the disease and somatic mosaicism will be after fertilization due to mitotic error in a somatic cell leading to a mosaic of somatic cells with the mutation and some without ? How can germline mosaicism occurs after conception?
Same doubt here. Have you cleared your doubt?
@@shyma3038 Ye teacher ratta marke bethi hai
Mosaicism occurs at zygote when there is error in mitosis.
For example:
Healthy parents, due to chromosomal non-disjunction the zygote ended up having trisomy 21, but due to error in mitosis and losing one of the extra 21 chromosome in one of the cells in zygote, some normal cells and some abnormal cells were formed. which would give birth to a baby with down's syndrome with mosaicism, which means the baby would have less severity of the disease, because he has normal cells and abnormal cells.
Now to answer your question, for example from a person with mosaicism(lets say abnormal cells are trisomy 21) passing the abnormal cell through gamete to the zygote, and there was no error in mitotic division (which causes mosaicism), this would lead to a zygote with trisomy 21 simply. and the baby born would just be a typical down syndrome baby, with no mosaicism, because what reason does the baby have to have normal cells? if all the cells of the zygote are abnormal? the only way a person born can have mosaicism is if the zygote has normal and abnormal cells.
If i still didn't clear your doubt feel free to ask.
@@chiragagrawal661 what a rubbish comment.......if u want to know mosaicism in details then u have to take subscription of her Pathology app.......
Yeah right
Somatic Mosaicism बताइये Mam Plz
मेरे बच्चे को de novo Mutation बताया है Genetic Counselor ने
Great explanation thaaanx
nice information sharma ji
nice video mam...just one question...can germline mosacism occur in Turner syndrome?
What the name of application ?
You can search Pathology Pathshala from your android device and you can download the app.
THANKS A LOT MAM I UNDERSTOOD EVERYTHING BUT IS MOSAICISM AND GONADAL MOSAICISM TOPICS ARE SAME THING AS IN MY BOOK THERE IS ONLY WRITTEN MOSAICISM BUT FROM BOOK I HAVENOT UNDERTAND
Love your videos mam please make videos on flowering plant in pharmacognosy i want to learn😑😑😑😑
Difference between x linked recessive and germline mosaicism?
In x linked recessive there must be Both (x ) affected with mutations that lead to transfer the disease to progeny which lead to cause it’s effects on somatic cell like hemophilia, G6PD .. and this type is inherited from both parents with two allele mutations….while in gonadal mosaicism it occurs in germline cell for the first time during gametogencis with negative family history to develop this disease..
What is te difference between somatic cell and germline
This explanation is misleading as it implies that the affected child had normal parents when in reality, the affected child had parents that SEEMED normal because their mutation was confined to their germline cells.
mam , how can klinfilter be a somatic mossacism
Wow, that is so nice thank u.
Please can l ask about your hair it is so elegant what use for it?☺️☺️
شعر ايه وبتاع ايه ،الولية بتتكلم فى العلم
Thnx,keep up the good work
Ur vadios are extraordinary.....mak mor vadios..
Thanks a lot.
thank you very much!
Thank you mam
Beautiful baby ❤
Thank you maam !!!
You are too cute 😍😍😍
😂
Ma'am aapki awaz Kitni achi h
Great
Sara dawt clear 😀
I come here only for mam ,when i see unacademy ads 😜😜
🤭
Thank you maim from Pakistan
Samajh to nahi aya🤯
Par jo kaha, bahut accha laga❤😍
😂😂
By by mai mam ko dekhne aaya tha😎😎😎😎
Explanation is a bit wrong
Could u plx tell me where exactly? Cos i have some biiig confusing questions in my head too
@@brittophone6219 germline or gonadal mosaicism refers to mosaicism in the fetal gonads, and when they become parents their children may have the disease. If a child has such a disease, his/her parent would have gonadal mosaicism (as gonads show mosaicism, some children maybe normal, some may have the disease)
@@harsha7643 yeh this makes sense actually thx