Microdeletion syndromes, means a combination of phenotypic manifestations originated by specific loss of genetic material from a chromosome.

They are very small in order to be seen by conventional analysis, and now they can be identified by molecular cytogenetic techniques.

Several genetic syndromes have now been identified, some examples of them are:

Syndrome Chromosomal deletion

DiGeorge 22q11
Velocardiofacial 22q11
Prader-Willi 15q11-13
Angelman 15q11-13
William 7q11
Miller-Dieker(lissencephaly) 17p13
WAGR (Wilms tumour + aniridia) 11p13
Rubinstein-Taybi 16p13
Alagille 20p12
Trichorhinophalangeal 8q24
Smith - Magenis 17p11

If you like to get more information about this syndromes, go to the web index at, What happens when our recipes combine with our partner´s recipes, and consult the links on page 3.

Maite Solé