12
$\begingroup$

Down's syndrome occurs when either the egg or the sperm cell contain on extra chromosome 21. To my understanding, women are born with all the egg cells in place already, so there's no further cell divisions, and thus no further chance of having one cell with an extra chromosome.

Now, the chance of having a baby with Down's syndrome increase with age:

At maternal age 20 to 24, the probability is one in 1562; at age 35 to 39 the probability is one in 214, and above age 45 the probability is one in 19

Why is this so, when the egg cells are complete at birth?

$\endgroup$
2
  • 1
    $\begingroup$ It is true that woman are born with all the eggs they will ever release , meiosis is not completed in the egg. There will be a meiotic cell division. Now this might sound confusing to you how there can be cell division without increase of egg number. For this - I will recommend that you read any basic bio textbook covering both the meiosis and gamete formation in females. $\endgroup$
    – biogirl
    Commented Dec 7, 2013 at 18:35
  • $\begingroup$ I think by this discussion it is clear that there is a chance of having one cell with extra chromosome. $\endgroup$
    – biogirl
    Commented Dec 7, 2013 at 18:40

2 Answers 2

10
$\begingroup$

The frequency rises with maternal age due to a peculiarity of meoisis in female mammals. Meiosis is originated in the fetal ovary, arresting at metaphase I with the homologous chromosomes aligned for segregation. Cells remain in this state until the time of ovulation, often decades later in humans. The longer cells remain in the arrested state, the greater the chance that there will be a nondisjunction event when meiosis resumes.

Source : http://www.madsci.org/posts/archives/2005-07/1121714807.Ge.r.html

I think you have the misconception that egg cells have completed meiosis by the time female is born. This is not true ( as indicated above in the answer). At birth, they are in metaphase I , after puberty, each month some of them divide further but only one survives and get arrested at metaphase II . Only after fertilization is the meiosis complete.

$\endgroup$
6
  • $\begingroup$ If you are not familiar with some of the terms or have any other confusion , ask ! $\endgroup$
    – biogirl
    Commented Dec 7, 2013 at 18:33
  • $\begingroup$ If you expect folks may have difficulties with jargon, linking appropriate pages in your answer may help. Great answer here btw +1 $\endgroup$
    – AliceD
    Commented Jul 10, 2015 at 10:52
  • 2
    $\begingroup$ no need to be careful! Just a hint :) $\endgroup$
    – AliceD
    Commented Jul 10, 2015 at 13:06
  • 1
    $\begingroup$ It isn't right that in Metaphase-I oogenesis gets arrested until puberty but actually in diplotene stage. The secondary oocyte after having completed Meiosis-I enters Meiosis-II and gets arrested in Metaphase-II until fertilisation(not syngamy). Source Besides madsci.org is not a reliable source, it's a Q&A site. $\endgroup$
    – Tyto alba
    Commented Feb 20, 2017 at 17:43
  • $\begingroup$ @biogirl Even I was wondering this for a long time then. Very fluid, biogirl. PS: just checked your bio(profile) and it seems(seemed) to me like I was reading something that I had written long back. Akin :) kudos and best of luck to your future endeavours. Sorry for this redundant praise incase if it doesn't fit in here but take my kudos ;) $\endgroup$
    – Harini
    Commented Apr 18, 2017 at 19:41
3
$\begingroup$

The chance of having a child with Down's Syndrome does not only have to do with cell division, but the mechanism that allows spontaneous abortion to occur within the uterus of the mother.

There is strong evidence for uterine selection against genetically disadvantaged embryos. However, as women approach the menopause and the risk of future infertility increases, this selection, or filtering stringency, is expected to relax.

Neuhäuser and Krackow’s paper provides evidence that older mothers, who give birth to children with Down Syndrome, have a relaxed stringency of quality control of embryos (or relaxed filtering stringency), which increases the probability that these women will bring children with developmental defects to full term. They believe that this relaxed filtering stringency is an adaptive maternal response and it might explain why the rate of Down Syndrome accelerates with increasing maternal age.

Basically, the mechanism that allows for the uterus to select against 'genetically disadvantaged embryos' (which can be Down's Syndrome, or other genetic deficiencies) is not as good at detecting these problems, OR as this paper suggests, is 'less picky' about the genetic quality of the fertilized egg, and will allow it to implant in the uterine walls.

It is also important to note that these studies are all ongoing, and many different reasons for the development of Down's Syndrome are unknown.

Literature Cited

Neuhäuser M & Krackow S (2006). Adaptive-filtering of trisomy 21: risk of Down Syndrome depends on family size and age of previous child. (Naturwissenschaften, DOI 10.1007/s00114-006-0165-3)

$\endgroup$
1
  • $\begingroup$ That's a very interesting finding. Are there any models for relaxed filtering stringency (RFS) in animal models? $\endgroup$ Commented Sep 24, 2015 at 20:46

You must log in to answer this question.

Not the answer you're looking for? Browse other questions tagged .