Triploidy??

[Frankie]

I don’t know if this is the right place but, its where I hang out most so here goes nothing.
Does anyone know anything about this condition(?) all i know is it is having 23 extra chromosomes…
Answers would be appreciated!

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-Frankie
Lack of charisma can be fatal

[Zyada]

Maybe you’re thinking of trisomy 21, aka Downs Syndrome?

[Frankie]

No…Downs syndrome is a tripling of one chromosome…

I don’t think this is a very common genetic disease, but I thought maybe someone here knew!
Thanks anyway!

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-Frankie

I’m not a shrimp, I’m a King Prawn.
-Pepe the Prawn

[ChiefScott]

[disable smilies] I D’Na know. [/disable smilies]

[missdavis102]

http://www.ibionet.com/rarediseases/triploidsyndrome.html

I haven’t looked at this site yet; just found it on Webcrawler. It may or may not be helpful to you.
R

[shantih]

Frankie, I think I can answer this one. When the egg and sperm come together, the result is a combination of chromosomes, XX for a girl and XY for a boy. Sometimes, a mistake in cell replication occurs, and the result is 3 chromosomes, i.e. XXX. I have read of people (men) who have XYY, and it (invariably?) manifests itself in a man of lower intellect and greater inclination towards violence than the average. However, in most cases, it is not possible for this combination of genetic information to lead to a viable fetus, and so the usual end is miscarriage in the first trimester.

There is also such a thing as tetraploidy, which is 4 chromosomes instead of 2. I had a miscarriage last year, and that was the cause.

I researched tetraploidy in several medical websites, not one of which I can call to mind now. Still, I would think that the larger ones would have info on triploidy, or at least give you the chance to send e-mail to a professional.

[Frankie]

Thanks Shanti et al!

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-Frankie
Lack of charisma can be fatal

[system]

Originally posted by shantih:
**Frankie, I think I can answer this one. When the egg and sperm come together, the result is a combination of chromosomes, XX for a girl and XY for a boy. Sometimes, a mistake in cell replication occurs, and the result is 3 chromosomes, i.e. XXX. I have read of people (men) who have XYY, and it (invariably?) manifests itself in a man of lower intellect and greater inclination towards violence than the average. However, in most cases, it is not possible for this combination of genetic information to lead to a viable fetus, and so the usual end is miscarriage in the first trimester.
**

Actually, the karyotypes above are additional examples of triploidy of 1 chromosome; in this case it is the X or Y chromosome.

47 XXX = superfemales (actually borderline retardation/low intellect is pretty common with this)
47 XXY = Klinefelter’s (sterile, small testes, tall)
47 XYY = frequently low intellect/aggressive. Over-represented in prison populations.

69 XXX, or XXY, or XYY is the result of simultaneous fertilization of an egg with 2 sperms. IIRC from med school (“few” years ago now), it is a lethal chromosomal abnormality. Many such fetuses are miscarried or are stillborn, those live born die in infancy. I have not yet found a site that had much more than definitional information via web searches. I’ll check MEDline & let you know.

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Sue from El Paso

Experience is what you get when you didn’t get what you wanted.

[system]

TITLE: [Triploidy syndrome: a case report]
VERNACULAR TITLE: La sindrome da triploidia. Descrizione di un caso.
AUTHORS: Garzena E; Farinasso D; Prandi GM; Vardeu P; Bagna R; Cavo L; Rinaldi M; Fabris C
AUTHOR AFFILIATION: Servizio di Neonatologia, Universita degli Studi, Torino.
SOURCE: Minerva Pediatr 1995 Jul-Aug;47(7-8):307-11
CITATION IDS: PMID: 7476758 UI: 96019693
ABSTRACT: Triploidy is a complete extra set of chromosomes and results in a clinically recognizable lethal syndrome with hydatiform placental changes, severe intrauterine growth deficiency, cranial bone abnormalities, eye defects, malformed ears, syndactyly, genital anomalies, congenital heart defects and brain anomalies. Less severe are instances of diploid-tetraploid mixoploidy and patients are more likely to survive. The present report is another contribution to the knowledge of human triploidy: we describe a 69,XXY triploid male occurred to our observation.

[system]

Well, I learned something, too - here’s a case of 69 XXX triploidy from a diploid ovum + 1 X-bearing sperm.

TITLE: 69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy.
AUTHORS: Galan F; Orts F; Aguilar MS; Clemente F; Loeda C; Aranda I; Jimenez Cobo B
AUTHOR AFFILIATION: Departamento de Pediatria, Facultad de Medicina, Alicante, Spain.
SOURCE: Ann Genet 1991;34(1):37-9
CITATION IDS: PMID: 1952791 UI: 92060848
ABSTRACT: A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).

Frankie, you didn’t mention why you were asking about this. I hope it is curiosity or job-related & not because this is happening to you or someone you care about.

One of the hazards of answering MB ?s is that it is easy to forget there is a real person behind the screen name, and that this has to be traumatic if it is happening within your family. When I talk to live patients, I get non-verbal cues as to how much information they are prepared to deal with, and I don’t get that from the MB. Please feel free to e-mail me off-line for additional information if you would like.

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Sue from El Paso

Experience is what you get when you didn’t get what you wanted.