Team links gene duplications, deletions within chromosome region to nonsyndromic bicuspid aortic valve disease
DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can ...
Nature4y
Chromosomes 15 and 22: deletions and inverted duplication chromosomes
the deletion of 22q11.21-11.23 (bottom) associated with DiGeorge and velocardiofacial syndromes. c) For the inverted duplications, the ideograms and partial karyotypes of two chromosome 15s show ...
Nature21d
Parathyroid hormone reserve in 22q11.2 deletion syndrome
Objective: We hypothesized that most patients with 22q11.2 deletion and a history of hypocalcemia have inadequate parathyroid function, manifested by intact parathyroid hormone levels below normal.