A terminal microdeletion in 14q (14qter) can result in a number of phenotype findings.
Terminal microdeletion of 14q may be associated with:
(1) mental retardation or developmental delay
(3) facial dysmorphism
(4) hypoplastic corpus callosum
Facial dysmorphism may include:
(1) large forehead
(3) narrow palpebral fissures
(5) short bulbous nose or upturned tip
(6) long philtrum
(7) thin upper lip
(8) small mouth
(10) prominent earlobes
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