[tri-med] Re: question

Thanks Karen!

Didn't realize that the names were considered 'slang'.  Learned a lot new 
here today!

I sure appreciate the time and sharing of info!
To you too Kim Ihlenfeldt!

I just love this list...........
Michelle mom to Alex (19, partial trisomy 14 mosaic) and Molly (14)
MichiganUSA


----- Original Message ----- 
From: "Karen" <karens@xxxxxxxxxxxxxxxx>
To: <tri-med@xxxxxxxxxxxxx>
Sent: Wednesday, November 29, 2006 7:03 PM
Subject: [tri-med] Re: question


> ----- 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
>
> 


                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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