Hey Awesomites!
- It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels of IGF- 1, short stature.
Memory aid added by IkaN: PulMOONary stenosis is seen in NOONan syndrome.
- It is a congenital disorder with the gene located on chromosome 12.
- Since the sun is most dominant at 12 noon, so it has an autosomal dominant inheritance.
- Since the sun is most dominant at 12 noon, so it has an autosomal dominant inheritance.
- It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels of IGF- 1, short stature.
Memory aid added by IkaN: PulMOONary stenosis is seen in NOONan syndrome.
The SUN BURNS at NOON!
Short stature
Unusual facies (Ocular hypertelorism, low set ears)
Neck is webbed
Bleeding disorders
Unusual chest shape (sunken- chest appearance)
RAS MAPK mutation
Nose is flat
Stenosis (Pulmonic stenosis)
Noonan syndrome!
That's all
- Jaskunwar Singh
Short stature
Unusual facies (Ocular hypertelorism, low set ears)
Neck is webbed
Bleeding disorders
Unusual chest shape (sunken- chest appearance)
RAS MAPK mutation
Nose is flat
Stenosis (Pulmonic stenosis)
Noonan syndrome!
That's all
- Jaskunwar Singh
The PTPN11 gene is located on chromosome 12, but variants in that gene only account for 50% of Noonan syndrome. Many other gene variants can also cause Ns, and they are not all on chromosome 12. For example, SOS1 is on chromosome 2 and RIT1 is on chromosome 1.
ReplyDeleteYes you are right, Marla. But these variants cause NS in fewer than 20% cases. I just mentioned about the gene mostly involved that is PTPN11 mutations.
DeleteAnyways, thanks for sharing the info :)
Very good mnemonic...
ReplyDeleteThank you :)
DeleteVery nice one sir..
ReplyDeleteThank you suresh..
DeleteBeautiful!!
ReplyDelete