Ontology highlight
ABSTRACT:
SUBMITTER: Sargent C
PROVIDER: S-EPMC4205179 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20140922 11
We describe a five generation family with dominantly inherited lymphedema, but no distichiasis, in which 3/3 affected offspring in the fifth generation have died of fetal hydrops and related birth defects. Mutational analysis disclosed a novel mutation in FOXC2 (R121C) in affected members. We searched for possible genetic influences on the greater severity of lymphedema (hydrops) in the fifth generation. Karyotypes disclosed an extra band in Xp in one affected fetus, but this was also found in t ...[more]