Koolen et al reported clinical findings associated with the 17q21.31 microdeletion syndrome. The authors are from multiple institutions in Europe and North America.
The syndrome is associated with a 500 to 650 kb deletion at 17q21.31.
(1) developmental delay
(3) facial dysmorphism (see below)
(4) friendly behavior/personality
(6) cardiac malformations
(7) genitourinary tract malformations
(1) long face
(2) tubular or pear-shaped nose
(3) bulbous nasal tip
To read more or access our algorithms and calculators, please log in or register.