[Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis].
Prader-Willi and Angelman syndromes are two genetic diseases whose clinical diagnosis is often impaired by a wide variability in some clinical findings. New insights in the genetic basis of these disorders allow the proposition of a biological approach to detect almost all Prader-Willi syndrome patients and over 80% of Angelman syndrome patients. Moreover, the results of these tests are indispensable for the evaluation of the recurrence risk.
Dupont
J M
JM
Laboratoire d'Histologie Embryologie Cytogénétique, Hôpital Cochin, Paris, France.
Cuisset
L
L
D000465:Algorithms; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D019175:DNA Methylation; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*
Bases génétiques des syndromes de Prader-Willi et d'Angelman: implications pour la conduite du diagnostic biologique.