Related Experiment Video
Updated: Jun 13, 2026
Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting
Published on: May 1, 2015
Prenatal Lymphedema: A Genotype-Phenotype Analysis
1Department of Plastic and Oral Surgery, Lymphedema Program, Boston Children's Hospital, Harvard Medical School, Boston, MA.
None:
Primary lymphedema most commonly affects the lower extremities, is progressive, and not curable. The condition is associated with mutations in approximately 30 genes. Patients usually present with edema during infancy or adolescence. Four of 364 (1%) patients with primary lymphedema in our database were diagnosed by prenatal imaging. Three children did not exhibit lymphedema after birth, 2 had a VEGFC mutation, and 2 exhibited normal lymphatic function by lymphoscintigraphy. Lymphedema identified prenatally is associated with a VEGFC mutation and can resolve postnatally.
Related Concept Videos
01:33Pleiotropy
01:35Pedigree Analysis
01:00Punnett Squares
01:15Development of the Lymphatic System
The first lymph sacs to form are the paired jugular lymph sacs located at the junction of the internal jugular and subclavian veins. From these sacs, lymphatic capillary plexuses extend to the thorax, upper limbs, neck, and head, eventually forming lymphatic vessels. Each jugular lymph sac maintains a...
01:11Genetic Lingo
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...