Collagen type VI gene expression in the skin of trisomy 21 fetuses
CS Von Kaisenberg, B Brand-Saberi, B Christ… - Obstetrics & …, 1998 - Elsevier
Objective: To determine whether the mechanism for the retention of interstitial fluid in trisomy
21 fetuses presenting with nuchal translucency at 10–14 weeks' gestation is an alteration in
the composition of collagen type VI, which is normally a triple helix formed of three single
chains, α1, α2, and α3. The genes responsible for the a1 and a2 chains, COL6A1 and
COL6A2, are located on chromosome 21 and therefore may be overexpressed in trisomy 21,
whereas COL6A3 is located in chromosome 2. Methods: Skin tissue was obtained after …
21 fetuses presenting with nuchal translucency at 10–14 weeks' gestation is an alteration in
the composition of collagen type VI, which is normally a triple helix formed of three single
chains, α1, α2, and α3. The genes responsible for the a1 and a2 chains, COL6A1 and
COL6A2, are located on chromosome 21 and therefore may be overexpressed in trisomy 21,
whereas COL6A3 is located in chromosome 2. Methods: Skin tissue was obtained after …