'Deletion syndrome' diaporamas de présentation

Chromosomal Abnormalities I SDK October 21, 2013

Chromosomal Abnormalities I SDK October 21, 2013. Chromosomes. Chromosomes are tiny string-like structures in cells of the body that contain the genes Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father. .

763 views • 63 slides

Chromosomal Abnormalities I SDK October 21, 2013

Chromosomal Abnormalities I SDK October 21, 2013. Chromosomes. Chromosomes are tiny string-like structures in cells of the body that contain the genes Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father. .

1.01k views • 63 slides

Mutations

486 views • 37 slides

Genetic Disorders

Genetic Disorders. Genomics. Study of all genes in the genome and their interactions Two most common DNA variations Single-nucleotide polymorphisms Copy number variations Epigenetics Heritable changes in gene expression that are not caused by alterations in DNA sequence. Classification.

786 views • 32 slides

Warm Up

254 views • 25 slides

Dietrich Matern, MD, FACMG Biochemical Genetics Laboratory Mayo Clinic, Rochester, MN

Nomination and Prioritization Workgroup Report on 22q11.2 Deletion Syndrome (22q11.2DS; DiGeorge Syndrome, DGS-1). Dietrich Matern, MD, FACMG Biochemical Genetics Laboratory Mayo Clinic, Rochester, MN. Nomination of 22q11.2DS. Proponents : - John Routes, MD (primary contact) and

373 views • 17 slides