Health problem caused by one or more abnormalities in the genome

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

Translocation shown using centromere probes

Turner's syndrome, centromere & cosmid probe

Whole arm translocation, centromere probes

Pericentric chromosome inversion

Duchenne muscular dystrophy control, FISH

A type of family tree with the parents occupying the centre space surrounded by their progeny with each of the figures appearing to be suffering from some kind of deformity. Engraving.

Prader Willi & Angelman's syndromes - probes

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.

XYY syndrome karyotype 47,XYY

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Genetic Diseases, Inborn

Images from the collections

Images referencing Genetic Diseases, Inborn

Works from the collections

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.

XYY syndrome karyotype 47,XYY

Genetic Diseases, Inborn

Images from the collections

Images referencing Genetic Diseases, Inborn

Works from the collections

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.

XYY syndrome karyotype 47,XYY

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