Chromosomes

Chromosome Breakpoints

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

Yulia Mostovoy

• Feb 1, 2021 • 1 min read

22q11 Deletion Syndrome

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Wolfram Demaerel

• Sep 1, 2019 • 1 min read

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

Matthew G. Sampson

• Oct 1, 2010 • 1 min read

Amino Acid Substitution

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Curtis R. Coughlin

• Jul 1, 2010 • 1 min read