Deletion 4p–:Wolf–Hirschhorn syndrome

Described in 1964 independently by U. Wolf in
Freiburg and K. Hirschhorn in New York and
their co-workers, this is a characteristic phenotype
resulting from a partial deletion of chromosomal
material of the short arm of a chromosome
4. Variable but considerable mental and
statomotoric retardation is associated with
characteristic facial features (1, 2) and with
midline defects (cleft palate, hypospadias),
coloboma of the iris, congenital heart defects,
and other malformations. In some patients the
deletion can only be detected by FISH. The
simplified map of 4p16 (3) shows the critical
chromosomal region