Eduardo S. Cantú

TL;DR: Given the results, which in some patients were in disagreement with their cytogenetic descriptions, trisomy for locus D21S13 through locusD21S58 is excluded from significant contribution to many Down syndrome features, the minimal chromosome region necessary in triplicate to result in the Down syndrome phenotypes in the patients characterized.

TL;DR: It is suggested that deletion of the maternally contributed chromosome leads to the AS phenotype, and a parental gamete effect such as genomic imprinting may be the best model to explain why apparently identical 15q11-q13 deletions may develop the different phenotypes of AS or PWS.

TL;DR: It is suggested that 15q12 deletions are frequent in Angelman syndrome but presence of the deletion does not appear to distinguish different clinical phenotypes.

TL;DR: Ten genomic DNA probes, subcloned from inserts derived from a phage library constructed from the DNA of flow-sorted chromosomes, have been mapped to locations within 15q11-15q13 and can be used in most PWS patients to analyze the region of proximal 15q implicated in this syndrome.

TL;DR: This family demonstrates that some Angelman syndrome cases may be dominantly transmitted with variable expression and associated with abnormal or cytogenetically apparently normal chromosome 15.