In article <4302gk$h72$1 at mhadf.production.compuserve.com>, Neil
Worthington 102705,2475 <102705.2475 at CompuServe.COM> wrote:
> I am trying to find information on "puppet children" which is
> refered to as Angelmans syndrome.
The Angelman syndrome is a neurobehavioral disorder characterised by
severe mental retardation, inappropriate laughter, puppetlike movements
and mild hypotonia, to mention some symptoms. It is is one of a number of
abnormalities that involve genomically imprinted genes
Normally, both alleles of a given gene are expressed, but for imprinted
genes, the sex of the parent transmitting the allele will dictate whether
that allele is expressed or not. Although the phenomenon of imprinting is
quite complex, AS results due to the absence of a gene or genes somewhere
in 15q11-13, that are expressed from the maternal allele only. This
absence is usually due to deletions of the maternal locus or uniparental
disomy. For a better description, I highly recommend the following:
Genomic imprinting and uniparental disomy in Angelman and Prader-Willi
syndromes: a review (1993) Am.J.Med.Genet., 46:16-25
and OMIM: document # 105830 (Online Mendelian Inheritance in Man-I forgot
the URL for this, but you can get there by accessing GDB
(URL=http://www.gdb.org), selecting GDB browser and from then on OMIM. The
interface is very user-friendly).
Hope this helps.
Nick.