Microdeletions at 19p13 can have a variety of clinical findings depending on the location and extent of the deletion.
Patient selection: microdeletion in 19p13
Subtypes: 19p13.2, 19p13.3, 19p13.12, others
(1) developmental delay with intellectual disability
(2) behavioral problems (aggression, self-injury, repetitive, other)
(6) variable short stature
(7) variable branchial arch defects
(1) rounded face with prominent cheeks
(3) arched eyebrows
(4) short nose with anteverted nares
(5) dental abnormalities
(6) ear abnormalities
(7) eye abnormalities
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