[tri-med] Re: question

 
Karen, 

Although I send very few emails on here, I read the list daily. I just
wantedto say I'm amazed and in awe of the knowledge you have and share with
everyone on here. I mean that sincerely. 

              Karen, grandma to Julian 3 yrs old, mosaic partial trisomy 1


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From:  "Karen" <karens@xxxxxxxxxxxxxxxx>
Reply-To:  tri-med@xxxxxxxxxxxxx
To:  <tri-med@xxxxxxxxxxxxx>
Subject:  [tri-med] Re: question
Date:  Thu, 30 Nov 2006 11:03:43 +1100
>----- Original Message -----
>From: "jwaite"
>>Hey folks, do any of the other trisomy 'numbers' have a name?
>>ie: trisomy 21 = Down Syndrome
>>trisomy 18 = Edwards Syndrome
>>Any others??????
>
>The names are "slang", the correct term is Trisomy if its an entire
>chromosome duplicated and a Duplication Syndrome if it is part of a
>chromosome. Except in the case of Robertsonian translocations - that may be
>a part of a chromosome but its considered a full chromosome.
>
>Some of the more common trisomies have been "named" usually after the
person
>who first described the syndrome (a syndrome is a group of symptoms that
>together are characteristic of a disorder). So whilst usually the only ones
>that are referred to by name are Down, Edwards and Patau the others MAY,
but
>not usually, be referred to by a name in some circumstances. So I will list
>the recognised (that is the ones that have had the features described as
>being part of a syndrome) trisomies and partials with the people who first
>described them.
>
>Trisomy 21 Syndrome = Down Syndrome - first reported in 1866 by J. Down
>Trisomy 18 Syndrome = Edwards Syndrome = Trisomy E - first recognized in
>1960
>Trisomy 13 Syndrome = Patau Syndrome = Trisomy D - first described by
>Bartholin in 1657 (yep that dates right) but named after Patau who first
saw
>the extra chromosome in 1960
>Trisomy 8 Syndrome - no specific name though I have heard some refer to it
>as Stalder Syndrome. First recognized in 1963 by Stalder, Buhler and Weber.
>Trisomy 9 Syndrome - no specific name that I am aware of. First recognised
>by Haslam in 1973
>Duplication 9p Syndrome - no specific name in my text but again I have
heard
>some refer to it as Centerwall Syndrome. First reported by Rethore in 1970
>but described by Centerwall and Beatty-DeSana in 1975.
>Duplication 10q Syndrome - first described by Yunis and Sanchez in 1974
>Duplication 15q Syndrome - first described by Fujimoto in 1974
>
>>Do the sex chromosome abnormalities have a 'name'?
>
>As for sex chromosomes these are not trisomies - trisomy refers to tri =
>three and somy which means autosome. The sex chromosomes are NOT autosomes.
>
>XYY Syndrome - no name despite the fact that its very common (1 in 840)
>thats because it is asymptomatic and the person "looks" normal. Usually
>discovered by accident. First idenitfied by Sandberg in 1961
>
>XXY Syndrome = Klinefelter Syndrome - named after Klinefelter who first
>described it in 1942
>
>XXXY and XXXXY Syndromes - no names. The more XX's the greater the effects
>on stature and cognitive development
>
>XXX and XXXX Syndromes - sometimes referred to as Trisomy X but its really
>Triple X Syndrome and four X's are included in the same syndrome. First
>described by Jacobs in 1959
>
>XXXXX Syndrome = Penta X Syndrome - first described by Kesaree and Wooley
in
>1963
>
>Now thats all the chromosomal duplications and trisomies listed in Smith's
>(the genetic "bible" on syndromes). There are other trisomies as you know
>but they are not recognised as syndromes, that is they don't have a group
of
>distinct features that identify them as a disorder.
>
>Life consists not in holding good cards but in playing those you hold well.
>                                             -- Josh Billings
>
>Keep Looking For Rainbows!!
>    _--_|\
>  /Karen \
>  \ _.--._ /
>           v Karen, Mum to Alex (12 years, T-18 Mosaic)
>http://members.optushome.com.au/karens
>
>                   Building ___ooOOoo__ Rainbows
>                        www.trisomyonline.org
>                   Families Helping Families On-line
>


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