Patau Syndrome is a genetic stipulation , which is generally fateful as it gives ascension to complicated heart diseases and dish out as boniface for various other diseases . This syndrome is characterise by the presence of an extra genetic material , which comes from the chromosome 13 . This additional familial material may be present in sealed cells or all the cells of the human body . In a general human body , the chromosome number 13 is present twice whereas , in mass who are suffering from Patau Syndrome , the chromosome 13 is present thrice , thereby leading to the rise of abnormalities .
It is a rare condition and pass in one child out of eight thousand to twelve thousand live births . The babies born with this syndrome have abnormalities in almost every electric organ nowadays in the eubstance , thus they can well die due to multiple organ failures . They also have from developmental delays and are quite small in size of it as compared to the other children of their eld . The family account of the disease or having a close proportional suffering from the same condition increase the risk of a pregnancy with Patau Syndrome .
Patau Syndrome is also referred as Trisomy 13 ; however this is in reality a eccentric of the syndrome . The tiddler born with this condition unremarkably give-up the ghost within ten to fifteen days of their nascency . A small fraction of the children deport with Patau Syndrome cope to survive for up to one year . It is quite difficult to forecast the life sentence expectancy of the kid born with this syndrome as the extent of the abnormalities present in their organs can not be tag powerful upon their giving birth . At most , the children carry with this syndrome live for as foresighted as ten yr .
What Causes Patau Syndrome?
As differentiate originally , Patau syndrome is a congenital condition which is caused due to the trisomy of the chromosome 13 . Apart from this , the presence of the redundant familial fabric attached to the chromosome leads to the certain mutation which causes this syndrome . In a majority of the cases , it is not inherit from the parents ’ cells . It occurs due to some random mutation occurring during the output of the bollock cell or sperm cells .
In some rare cases , the additional hereditary material is found to be shared between chromosome 13 and another chromosome . This condition is known as chromosomal translocation . Patau syndrome caused due to translocation is transmissible .
At times , just a dowery of chromosome 13 is found in all the three copies of the chromosomes present in all the cells of the human organic structure . This syndrome is name partial trisomy 13 .
The embryos which are conceptualise as a termination of intimate intercourse between relatives ( bloodline - relate individual ) are believe to channel genetically mutate cells , which later transmute into Patau syndrome . Such couples are advised to consult a genetic counselor before planning a pregnancy as the advocate can easily level out the genetic disorder that the shaver is potential to face and will draw attention to the elbow room by which this stipulation can be quash .
In some people suffering from Patau syndrome , they have an additional written matter of chromosome 13 in only certain cells of the body . This is call mosaic trisomy 13 . The sincerity of mosaic trisomy 13 syndrome is dependent on the nature and the proportion of cells which own the supererogatory chromosome . .
Symptoms of Patau syndrome:
The children suffering from Patau syndrome can have some of these deformities .
Diagnosis of Patau Syndrome:
Patau syndrome can be name during the other stage of pregnancy . In the ultrasounds conducted during the first trimester of the maternity menstruum , the abnormalities are quite visible . The home reed organ of the embryo either have delayed evolution or they are abnormally developed . Once the ultrasounds obtain convince the MD that something is wrong with the embryo , physician may conduct an MRI or CT scan as the disfigurement are prominently see in an MRI or CT scan . To support the syndrome further , the Dr. may study the character of the chromosomes . If the syndrome is present , then trisomy of chromosome can be notice . Apart from that , the doctors also behave mammilla like mobile phone - barren DNA screening trial , Non - invasive prenatal testing ( NIPT ) or Pregnancy - Associated Plasma Protein- A ( PAPP - A ) test to reassert the syndrome .
However , unlike the other congenital conditions , the covering of the female parent ’s serum does not ply any useful result . A especial eccentric of sonography shout out ultrasonography- holoprosencephaly is choose which in cause shows the front of pathognomonic features , the existence of the syndrome in the embryo is confirmed . Moreover , tests like Chorionic Villus Sampling ( CVS ) and Amniocentesis are used to completely confirm the presence of the syndrome .
Is Patau Syndrome Treatable?
There is n’t any specific treatment for this syndrome . Some children who are name with Patau Syndrome have incurable severe defects from birth . However , certain measures can be taken to extend their lifetime . It is difficult to survive for them even for a few calendar month . surgical process is definitely expect to fix sure defects for expand their year of selection . vital defects like muddle in the nub and fissure blemish need to be mended immediately . As they suffer from developmental holdup , give them regular speech training and strong-arm therapy has proven to be quite effective . If the syndrome has been prenatally diagnosed , the parents can opt to finish the pregnancy as the chance of survival of the child is quite humbled .
Once the first baby has been diagnosed with Patau Syndrome , the parents are advised to take genetic counseling to hash out the further chances of their second nipper to be affect by the same condition and the ways by which they can debar this situation and can conceive a normal small fry .
This genetic anomalousness is not gender oriented and the chance of being strike by this syndrome is same in both the genders .
