What is upd 14/ pat

So, what exactly is this UPD14/ Paternal? Before Declan was born, I had never heard of such a thing. I knew there were people with rare chromosome disorders and I was also a little familiar with Trisomys like, Down Syndrome. But what the heck was Uniparental Disomy 14/Paternal?

I'm totally not even remotely close to a geneticist but I will try to explain it the best I can.

Uniparental- One Parent
Disomy - 2
14- Chromosome number
Paternal- Dad

In a 'typical' person, there are normally 46 Chromosomes/ 23 from mom and 23 from dad. Each contain thousands of genes ( Gah! How amazing is God, right?!?). During conception and the body's formation the body generally develops correctly, but on rare occasions there's a glitch and things like extra, missing or duplicated chromosomes can occur. For instance, someone with Down Syndrome has an extra 21st chromosome. In most cases the body did not succeed in deleting the extra one.

In Declan's case his body produced 3 #14 chromosomes, 2 from dad & one from mom. The body realized it and " kicked one out," however, it kicked out mine and not the extra one from Mike. So, Declan ended up with a disomy of the 14th chromosome.

Here are some characteristics from the Rare Chromo site:
Declan did not fit all characteristics, but these are common traits

• Excess amniotic fluid of mother while pregnant 

• Low birthweight and premature birth  
[ dex did not have low birthweight, but was premature at 37 weeks after trying to come since 26 weeks ]

• Small chest and narrow, bell-shaped ribcage, causing 
underdeveloped lungs and serious respiratory problems in 
newborn babies. The appearance of the ribs on X-ray has 
been compared to a coat hanger. Three children have 
been described in middle childhood (ages 5 to 9); they 
outgrew their severe respiratory problems 
[ dex did not need a tracheotomy but he was intubated for 2 weeks after birth ] 

• Short arms and legs 
[ dex has long arms and legs ]

• Hernias, including ventral wall hernia (diastasis recti). This 
appears as a ridge of muscle running from the breastbone 
to the navel whenever your baby strains and is caused by 
a separation of the right and left sides of the muscle 
covering the front of the abdomen. Some babies are born 
with an omphalocele, where part of the intestine 
protrudes at birth through a large hole in the abdomen 
near the navel 
[ dex did not omphalocele but he has a very significant hernia ]

• Some level of learning difficulty. This has generally been 
described as moderate to severe but with so few cases it 
is impossible to be certain 
[ so far, dex isn't too far behind, but he does have a little difficulty physically however he does catch on quickly. At 16 months his physical level is around 10-11 months but cognitively he seems to be on track ]

• Marked feeding difficulties as a young baby, so that some 
babies need direct feeding to the stomach via a 
gastrostomy tube 

Here is a picture of Dex at one day old. Lot's of tubes and wires >>

Just a little background and soon I'll share more of Declan's unique challenges and triumphs! 

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