An 8 year old boy with ring chromosome 21 who was susceptible to sinorespiratory infections due to hypogammaglobulinaemia is reported. He presented with the characteristic features of monosomy 21 ...

Note the potential formation of monosomy or trisomy. Once fertilization occurs, the gamete with 24 chromosomes forms a zygote with 47 chromosomes (a trisomy with an extra copy of 1 chromosome).

Other aneuploidies associated with abnormal screen results include male fetuses with an extra X chromosome (47 XXY or Klinefelter's syndrome) and female fetuses with monosomy X (45X or Turner's ...

Mitochondria play central physiological roles in most eukaryotic cells. In pathogenic fungi, mitochondrial function is critically important during host-pathogen interactions, allowing either ...

PTEN mutations disrupt inhibitory GABAergic signaling, causing neurodevelopmental defects that can be mitigated by β-hydroxybutyrate, which activates DAF-16/FOXO and may offer a therapeutic approach ...