guidebook. - Fanconi Anemia Research Fund

Glossary
363
Polypharmacy: The practice of administering many
different medicines, especially concurrently for the
treatment of the same disease. 1
Portal hypertension: Hypertension in the hepatic portal
system caused by venous obstruction or occlusion
that produces splenomegaly (abnormal enlargement
of the spleen) and ascites (abnormal accumulation of
serous fluid in the abdominal cavity) in its later stages. 1
Post-prandial: Occurring after a meal. 1
Prenatal diagnosis: Many diseases that involve a
single gene defect can now be diagnosed very early in
pregnancy. Prenatal diagnosis looks at fetal cells in the
mother’s blood, amniotic fluid, or chorionic villi. This
may detect problems while the baby is still growing or
after birth. In late pregnancy, tests may examine blood
from the umbilical cord. 5
Proband: An individual being studied (as in a genetic
investigation). Often the proband is the first affected
family member who seeks medical attention. 1
Puberty: The time during which sexual and physical
characteristics mature due to hormonal changes. The
exact age a child enters puberty depends on many factors,
such as a person’s genes, nutrition, and gender.
During puberty, various endocrine glands produce hormones
that cause body changes and the development of
secondary sex characteristics. In girls, the ovaries begin
to increase production of estrogen and other female
hormones. In boys, the testicles increase production of
testosterone. Breast development is the main sign that
a girl is entering puberty. The first menstrual period
(menarche) usually follows within about two years.
The first sign of puberty in boys is enlargement of both
testicles. 5