TABLE I.
Family
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A
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B
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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.
Addition details are provided in Table SIII. Patient photos are available upon request.
All six subjects had additional neuropsychiatric features not listed here (see Table SIII).
Subclinical features only (see Table SIII).
Actual scores/values are provided in Table SIII.
Mild, mild intellectual disability (55–70); Bl, borderline intellectual disability (70–84); Avg, average intellect (85–115); Aavg, above average intellect (>115).
At age 39 years, using the Wechsler Adult Intelligence Scale.
Some features have been previously reported in other individual(s) with 2q13 duplication (see Table SIII).
At age 50 years (measurements at age 70 years also available).