[HTML][HTML] Molecular genetic analysis of the DiGeorge syndrome among Korean patients with congenital heart disease
H Hur, YJ Kim, CII Noh, JW Seo, MH Kim - Molecules and cells, 1999 - Elsevier
The DiGeorge syndrome (DGS) is a developmental defect of the third and fourth pharyngeal
pouches, which is associated with congenital heart defects, hypoparathyroidism, cell-
mediated immunodeficiency, velo-pharyngeal insufficiency and craniofacial dysmorphism.
The aetiological factor in a great majority of DGS cases is monosomy for the chromosomal
region 22q11. To analyze DGS at the molecular level, a new molecular probe (DGCR680)
encompassing the ADU balanced translocation breakpoint was prepared. When 13 Korean …
pouches, which is associated with congenital heart defects, hypoparathyroidism, cell-
mediated immunodeficiency, velo-pharyngeal insufficiency and craniofacial dysmorphism.
The aetiological factor in a great majority of DGS cases is monosomy for the chromosomal
region 22q11. To analyze DGS at the molecular level, a new molecular probe (DGCR680)
encompassing the ADU balanced translocation breakpoint was prepared. When 13 Korean …