TABLE I.

Summary of Phenotypes in Adults With 2q13 Duplications^a

	Family
	A					B
	Proband (subject III-2)	Brother (subject III-1)	Brother (subject III-3)	Aunt (subject II-2)	Mother (subject II-4)	Proband (subject II-2)
Age at last assessment (years)	30	32	29	56	55	70
Sex	Male	Male	Male	Female	Female	Male
Neuropsychiatric featuresb
Psychotic disorder	Yes	No	No	Yes	No	Yes
Age at onset of psychosis (years)	20	—	—	19	—	22
Major mood and/or anxiety disorder	—	Yes	Yes	—	Yes	—
Obsessive–compulsive disorder	Yes	Noc	No	No	Yes	Noc
Trichotillomania	Yes	No	Yes	Yes	No	No
Vertigo	Yes	Yes	No	No	No	No
Sleep disturbances/insomnia	Yes	Yes	Yes	Yes	Yes	Yes
Autism spectrum disorder	No	No	No	No	No	No
Seizures	No	No	No	No	No	No
Cognitive features
Global developmental delay	No	No	No	No	No	No
Learning difficulties	Yes	No	Yes	Yes	Yes	No
WASI Full Scale IQd,e	Avg	Avg	Aavg	Bl	Avg	Avgf
WASI Verbal IQd,e	Avg	Avg	Avg	Avg	Avg	Avgf
WASI Performance IQd,e	Avg	Aavg	Aavg	Mild	Avg	Avgf
WRAT-3 Reading (grade level)d	>HS	>HS	>HS	6	>HS	—
WRAT-3 Spelling (grade level)d	12	>HS	>HS	4	12	—
WRAT-3 Arithmetic (grade level)d	6	6	12	4	6	—
Other notable featuresg
Dental	Yes	No	Yes	Yes	Yes	No
Otolaryngologic	Yes	Yes	Yes	Yes	Yes	No
Renal/urogenital	No	Yes	No	Yes	No	No
Endocrine/metabolic/hematologic	Yes	Yes	Yes	Yes	Yes	Yes
Ophthalmologic	No	No	No	No	Yes	Yes
Cardiac	No	No	No	No	No	Yes
Respiratory	Yes	No	No	No	Yes	No
Gastrointestinal	Yes	No	No	Yes	No	Yes
Dermatologic	No	No	No	No	Yes	No
Musculoskeletal/rheumatologic	No	Yes	Yes	Yes	Yes	Yes
Immunologic	No	No	No	No	No	No
Multiple congenital abnormalities	No	No	No	No	No	No
Anthropometric measurements
Height (percentile)d	<5th	<5th	15th–25th	<5th	<5th	25th–50thh
Body-mass index (kg/m2)	25–30	19–25	19–25	25–30	>30	19–25h
Head circumference (percentile)d	50th–75th	3rd–10th	25th–50th	25th–50th	>97th	25th–50thh

HS, high school; WASI, Wechsler Abbreviated Scale of Intelligence; WRAT3, Wide Range Achievement Test 3.

^aAddition details are provided in Table SIII. Patient photos are available upon request.

^bAll six subjects had additional neuropsychiatric features not listed here (see Table SIII).

^cSubclinical features only (see Table SIII).

^dActual scores/values are provided in Table SIII.

^eMild, mild intellectual disability (55–70); Bl, borderline intellectual disability (70–84); Avg, average intellect (85–115); Aavg, above average intellect (>115).

^fAt age 39 years, using the Wechsler Adult Intelligence Scale.

^gSome features have been previously reported in other individual(s) with 2q13 duplication (see Table SIII).

^hAt age 50 years (measurements at age 70 years also available).