Arran's Chromosomal Disorder


About half way through our pregnancy with Arran we were told that he had a chromosomal abnormality.  He actually has 2 abnormalities on the same chromosome, Chromosome number 4.  Here is a brief review of some basic biology and the specifics of Arran's problems.

 For those of you who want to review exactly what a chromosome is and what they do please click here.

Arran has 2 different chromosome abnormalities on chromosome number 4.  Each chromosome is divided into two segments the short arm which is known as the "p" arm and the longer segment is called the "q" arm.  Arran has a deletion of a segment on the p arm.  He also has a duplication of a large segment on the q arm.

The deletion of the segments on the p arm is known as Wolf-Hirschhorn Syndrome.  It was named for two scientists who first discovered it in 1965.  There is a large degree of variability between patients with this syndrome.  Some are near "normal" in appearance and mental capacities, others are not.  This is due to the amount of material that is missing in the p arm of the chromosome and the exact genes that are missing.  Since Arran has another chromosomal disorder it will be impossible to guess how this syndrome will manifest itself. For more information on Wolf-Hirschhorn Syndrome click here.

The duplication that he has on the q arm has no syndrome attached to it.   All bets are off as to what kind of problems this will cause.  The interplay between the two abnormalities is also something that no one has any idea about.  We were initially told that he wouldn't make it to delivery.  The fact that he has made it this far proves that God has his hand in this.