Duplication at 16p11.2-p12.2 is a reciprocal copy number variant (CNV) with a number of clinical features.

Patient selection: duplication at 16p11.2-p12.2


Clinical findings:

(1) psychiatric disorder (autism spectrum disorder, schizophrenia, obsessive, stereotypic behavior, other)

(2) developmental delay or cognitive impairment

(3) speech delay

(4) epilepsy

(5) short stature

(6) microcephaly

(7) tapering fingers

(8) mild dysmorphic features (broad nasal bridge, upturned nose with bulbous tip, bow-shaped upper lip, dental crowding, overfolded helices, heavy eyebrows with synophrys, prominent glabella)

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