Mutations in the cystic fibrosis transmembrane ... of azoospermia associated with low semen volume and acidic pH. These male will have normal testicular sperm, which are immotile due to the ...
the deletion endpoints in the male proband were different from those in his carrier mother, suggesting either gonadal mosaicism or a second deletion event in maternal meiosis. Of the 14 mutations ...
Twenty-two pair of chromosomes are the autosomes and the 23rd pair that determines your gender (XY-male and XX-female). The AIP gene is located on the 11th chromosome (Figure 1). Patients with an AIP ...