This report describes an infant with trisomy 13 associated with imperforate anus. Clinical features of patau syndrome described in standard texts do not include imperforate anus or anorectal ...

Mosaic Down syndrome is a rare form of Down syndrome. People with mosaic Down syndrome only show extra chromosomes in some cells, as opposed to all their cells. Human DNA typically contains 23 pairs ...

Mosaic Down syndrome has some cells with three copies of chromosome 21, and some with two instead of all three. Only about 1% ...