Abstract Background Copy number variations (CNVs) having no (obvious) clinical effects
were rediscovered as major part of human genome in 2004. However, for every …

Prader–Willi syndrome (PWS) is a complex genetic syndrome involving imprinted genes on
chromosome 15. It is usually sporadic, and very few affected siblings have been described …

Imprinting defects in 15q11-q13 are a rare but significant cause of Prader–Willi syndrome
(PWS) and Angelman syndrome (AS). Patients with an imprinting defect have apparently …

D15S63 is one of the loci, on chromosome 15q11-q13, that exhibit parent-of-origin
dependent methylation and that is commonly used in the diagnosis of Prader-Willi or …

Genomic imprinting is a curious manifestation of epigenetic inheritance that defies normal
Mendelian genetics. Most vertebrate genes are expressed from both, the paternal and …

The terms heterochromatin and euchromatin have evolved since their introduction in 1928
by Heitz (reviewed in ref. 1). This reference provides an excellent historical perspective of …

In 1981, Ledbetter and co-workers45 described a cytogenetically visible deletion in proximal
15q in four patients with Prader-Willi syndrome (PWS). Proximal 15q was targeted for …

Aim This study aimed at confirming/excluding PWS in clinically suspected patients through
feasible laboratory techniques on the cytogenetic level, cytomolecular level using …

Copy number variations are nowadays most often understood as submicroscopic gains or
losses of chromosomal material, either connected with a disease or just one of the many …

Los síndromes de Prader-Willi (SPW) y de Angelman (SA) son dos síndromes de desarrollo
y conducta que ocurren con una frecuencia 1/15.000-20.000 recién nacidos. Resultan de la …