Question

The results come back and there is mixed news. The good news is that the child has pre-disease alleles just like her parents and that the biochemical tests are normal. The bad news is that you discover an incidental finding of an actionable condition. There is only one X chromosome present in the karyotype.

Explain to your client what an aneuploidy is, how it resulted in the single sex chromosome, and what the implications are for her unborn daughter.

Answer 1

Normally a human cell has 46 number (23 pairs) of chromosomes which is called as the euploidy condition. 22 pairs are called as autosome and 1pair is allosome (X and Y). Allosome is used for the Sex determination.

XX - FEMALE ( X chromosomes from the parents in the gamates)

XY- MALE ( X chromosome from female parent and Y chromosome from male parent).

The condition in which the number of chromosomes will be 1less /1 more is calles aneuploidy. Aneuploidy in the allosome is call2 allosomal aneuploidy.

So the child is suffering with allosomal aneuploidy, that is child is having only single X chromosomes in karyotype ( whole collection of chromosomes).

As there is single X chromosomes that is " X0 type" the unborn child is daughter.

This may be caused due to the error in the meiosis during the separation of chromatids.

The child may suffer with Turner syndrome that may effect the growth and body posture of the child if untreated.

Symptoms include short stature. Webbed neck, swoollen hand and feet, less height.

Complications may include heart defects.

It can be treated by estrogen replacement therapy, injection of human growth harmone.

The aneuploidy may become lethal if untreated on time.