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.
Clinical features:
(1) developmental delay
(2) hypotonia
(3) facial dysmorphism (see below)
(4) friendly behavior/personality
(5) epilepsy
(6) cardiac malformations
(7) genitourinary tract malformations
Facial features:
(1) long face
(2) tubular or pear-shaped nose
(3) bulbous nasal tip
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