[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.

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                                            -- Josh Billings

Keep Looking For Rainbows!!
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