Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
    

concept

Fragile X metaphase spread

Unbalanced translocation 46,XY,t(14;21)

Fragile X chromosome, atomic force microscope

Diagnostic test for Fragile X, using presence (normal) or absence (Fragile X syndrome) of FMR-1 protein. FMR-1 protein expression in blood cells has been made visible with antibodies against the FMR-1 protein. The presence of FMR-1 protein is made visible as red staining. a: red staining in cells of normal individual. b/c: absence of staining in male patient. d: female patient; one cell is showing staining and in the other cell there is an absence of staining - this individual is a carrier.

Human metaphase, translocation, cosmid probe

Elements of medical genetics / Alan E. H. Emery.

Turner's stndrome, centromere & cosmid probe

Human genome epidemiology : a scientific foundation for using genetic information to improve health and prevent disease / edited by Muin J. Khoury, Julian Little, Wylie Burke.

Ethical, social, and legal dimensions of screening for human genetic disease / editor, Daniel Bergsma ; Genetics Research Group of the Institute of Society, Ethics and the Life Sciences.

Genetic Diseases, Inborn

Images

Catalogue

Elements of medical genetics / Alan E. H. Emery.

Turner's stndrome, centromere & cosmid probe

Human genome epidemiology : a scientific foundation for using genetic information to improve health and prevent disease / edited by Muin J. Khoury, Julian Little, Wylie Burke.

Ethical, social, and legal dimensions of screening for human genetic disease / editor, Daniel Bergsma ; Genetics Research Group of the Institute of Society, Ethics and the Life Sciences.

Le mal heréditaire / Docteur Cabanès.