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The Chromosome 21 Phenotypic Mapping
Project
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We welcome the opportunity to collaborate with interested parties. If
you have a case or cases with partial aneuploidy of chromosome 21,
or patients diagnosed with features of Down syndrome or Monosomy 21
syndrome but apparently normal chromosomes, we would be interested
in performing molecular studies to determine breakpoints or microduplications/deletions.
In order to add the case to our panel of individuals with chromosome
21 aneuploidy, we will need a tissue sample or cell line on which
to perform the molecular studies. In order to add the individual to
the phenotypic map, we require detailed information on the their phenotypic
features: copies of the geneticist's report, cardiac studies, MRI
studies of the brain, etc. Below you will find instructions on sending
us samples, as well as brief checklists for recording the common phenotypes
of individuals with 21 aneuploidy. |
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