CHROMOSOMES CHANGE THE GAME - ARE YOU THE TARGET FOR THE RARE DISEASE I ANALYZE YOURSELF

on
 As geneticist pharmacist i am doing OPD with hematologist and geneticist 
patient of around age of 11-12 years comes in OPD with the physical charactertics of prominent ears. his mother told he have learning difficulty and he not memorize anything effectively.

triple x syndrome symptoms turner syndrome klinefelter syndrome xyy syndrome triple x syndrome treatment famous person with triple x syndrome triple x syndrome causes triple x syndrome life expectancy


OTHER VISUALIZED CHARACTERISTICS ARE : 

  • overlarge head 
  • long face
  • prominent mandible 
  • broad forehead 

By visualizing these symptoms whats come in mind ?

Before i tell you the diagnosis or expected diagnosis just think 2 minutes either you see any children with these symptoms.

OK then these symptoms are straight forwarded pointing out towards FRAGILE X SYNDROME ?

turner syndrome symptoms turner syndrome karyotype turner syndrome treatment celebrities with turner syndrome turner syndrome baby turner syndrome chromosome turner syndrome genotype turner syndrome life expectancy

WHATS CONFUSING ?

Most of the geneticist are confuse with TURNER SYNDROME and FRAGILE X SYNDROME 

SO LETS DIFFERENTIATE IT 

basically in fragile x syndrome HYPERMETHYLATION occur in FMRP gene
whereas in the case of TURNER SYNDROME there's a  deletion of second sex chromosome
either from mother or from father side 

symptoms are also variate 
patient with TURNER SYNDROME have low posterior hairline, chest changes that are broad and wide spaced nipples
along with these sexual characteristics are not develop 
genetic pharmacist salary pharmacogenomics pharmacist pharmacogenomics pharmacist salary genetics pharmacogenomics pharmacist certification genomic pharmacist salary genomics pharmacist jobs pharmacogenomics in pharmacy practice

FRAGILE X SYNDROME : MALE DISORDER
TURNER SYNDROME : FEMALE DISORDER

HOW YOU CAN VISUALIZE IN NEWBORN -- TURNER SYNDROME

  • Neck visualize like web 
  • lympheedema
  • renal and cardiac changes
  • gonadol dysgenesis

Comments

Post a Comment

If you have any queries about this blog, contact through email.