From: email@example.com(Steven B. Harris)
Subject: Re: Inherited Turners?
Date: 11 Jun 1999 00:51:47 GMT
In <firstname.lastname@example.org> email@example.com (John
>This is my first posting to this group, so please excuse me if I say
>My first wife, Mary Ellen, died in 1981 (age 27) of a ruptured aortic
>anneurysm with pericardial tamponade. In the report of her autopsy, I saw
>my first ever reference to Turner's Syndrome. Apparently, neither she nor
>her family was aware of her condition, though I'm surprised her
>pediatrician missed the obvious physical signs (webbed neck, shield
>chest, Cushingoid features, lack of sexual development), though they were
>aware of the non- development of her ovaries and she was followed by a
>pediatric cardiologist because (as I was told) "one of the chanbers of
>her heart was smaller than the others". My best guess is a combination of
>no early doctor who put all the pieces together combined with the
>familial pattern of not seeing a doctor unless bleeding or broken bones
>More to the point, since Mary Ellen's death, the family has had two other
>First, Mary Ellen's fraternal twin brother (any info on TS girls with
>male twin brothers?) fathered two children- The first, a son, seems to be
>a healthy, normal 8 year old. Their second child, a daughter, was
>afflicted with a leukodystrophy related to the family's Irish/Scottish
>origins; she showed first symptoms at 8 months and died by age 4 of
>Second, Mary Ellen's father discovered that he had an aortic anneurysm in
>his torso. It was subsequently discovered that this was a Y-linked
>genetic trait in his family.
>So, I guess my question is- Is there any common thread here? Or has this
>family just had a bad run at the genetic craps table?
>My reason for asking is this- One of Mary Ellen's younger brothers and
>his wife have announced that they are having a baby in January. Given
>everything that has happened, should they be looking at serious prenatal
>testing and, if so, what kind and for what?
>Thanks in advance...
Well, the Turner's-related aneurism is not the Y-linked one, of
course, so that has to be just bad toss of the dice. You knew that.
Can't help you on the rest, except to note that if this aneurism is a
Y-linked trait and your father-in-law had it, then obviously his sons
and grandsons will have it also. So they need to be screened regularly
by ultrasound. Beta blockers can greatly cut aneurism risk, and
ultrasound screening can find them and get them fixed before they get
large and rupture. It's critically important to control blood pressure
throughout life in people who are predisposed to this.
As for prenatal genetic screening, it usually doesn't make much
sense to screen for anything you're not prepared to abort the child
for. It's too risky to be used for just "advance warning" stuff.
Ultrasound, on the other hand, seems to be quite safe, and shows up a
great many major cardiovascular defects, and is worth doing in just
about any family with a history of genetic abnormalities. Mind that
you get it done in a teriary care center (referal center for pediatric
high risk cases) since skills of sonographers and radiologists reading
sonograms vary hugely, and prenatal ultrasound screening is some of the
most difficult interpretive work there is. If you waste the first one
(which often happens if you get it done locally, or by your doc who
happens to have a machine), you've burned the same money (or insurance
fee) that you would have to get a first class exam.