Table 1

Genotypic and phenotypic characteristics of patients with an interstitial 16p13.3 duplication

Patient	1	2	3	4	5	6	7	8	9	10	11	12
Telom bcr (kb)	1863–1880	2680–2682	2812–2813	2937–3083	2978–3292	2998–3032	3506–3513	3513–3542	3597–3604	3629–3648	3651–3656	3667–3688
Centrom bcr (kb)	4665–4693	3874–3927	4765–5365	5706–5847	4851–5074	4328–4367	6165–6177	4736–4758	3942–3953	3993–4109	4281–4290	4574–4599
Inheritance	De novo	De novo	Maternal	De novo	De novo	De novo	De novo	Paternal	De novo	De novo	De novo	De novo
Gender	Female	Male	Male	Male	Female	Male	Male	Female	Female	Male	Female	Male
Biometry W	p50	p50	p50	p5	p10	p50	p50	p10–25	p3	p25	p10	–
At birth L	p50	–	<p5	–	p75	–	p25	p5-10	<p3	p25–50	p10	p90
OFC	–	–	p50–75	–	p25	–	p75	p25	–	p50–75	p50	–
Age last consult	4½ months	13 y 6 months	3 y	11 y	16 y	8 y	18 y	3 y	8 y	15 y	2 y 9 months	10 y
Growth	Normal H p10; W p25; OFC p10	Normal H p90; W p75–90; OFC p90	Normal Wp25–50; H p10; OFC p3	Normal W p3, H p50, OFC p 10	Normal	Normal	Normal W p25–50; H p75–97; OFC p25–50	Normal W p25; H p90	Normal W p10; H p10–25	Normal W, L and OFC at p75	Normal W and H p25–p50; OFC p50–p75	Precocious puberty (W >p97, H >p97, OFC p40)
Delay in development	–	Mod (WISC-III IQ 46); pronounced speech delay	Mild (LIPS-R: brief IQ 68—fluid reasoning 73)	Mod (WISC-R IQ 51—perf: 52; verb: 54)	Mod (WISC-R IQ 45 perf 63; verb 39) severe verbal dyspraxia	Mod (WISC IQ 50)	Mild-mod (IQ 56); speech articulation problems	Mild (PLS-4: expressive language 74; total 77)	Low normal intelligence; speech articulation defect	Mod	Mild	Low normal intelligence
Behaviour	–	No behavioural problems	No behavioural problems	Behavioural problems	No behavioural problems	AuSD; ADHD	AuSD; ADHD; aggressive	No behavioural problems	No behavioural problems		No behavioural problems	No behavioural problems
Hands	Short, proximally implanted, adducted thumbs	Short fifth fingers	Hypoplastic thumbs and thenar eminences; long fingers	Short, proximally implanted thumbs; camptodactyly II-V	Tapering fingers; short fifth finger	Camptodactyly 2–5	Short fingers	Tapering long fingers	Proximally implanted thumbs; long fingers; hyperconvex nails	Mild cutaneous syndactyly, camptodactyly (fingers 2–4)	Small, proximally implanted and adducted thumbs	Large, proximally implanted thumbs; mild syndactyly 2–3, camptodactyly (2, 3 and 4)
Feet	Vertical talus; dorsiflexion; proximally placed toes I	Pes cavus; camptodactyly; 4–5 clinodactyly	Medially deviating, broad toes; abnormal nail beds	Camptodactyly; sandal gap	Bilateral equinovalgus; short toes; camptodactyly; sandal gap	Camptodactyly 2–4	Sandal gap; camptodactyly; sandal gap	Mild 2–3 syndactyly; club foot right	Dysplastic toe nails; camptodactyly; hallux valgus	–	Short halluces	Large halluces; sandal gap
Musculoskeletal findings	–	C5–C6 vertebral fusion; mild pectus excavatum	Plagiocephaly; leg length discrepancy; normal joint mobility	Mild pectus excavatum; flat, asymmetric thorax	–	–	Scoliosis	Hip dislocation; spinal lipoma	Severe congenital left hip luxation	Incomplete extension elbows	–	–
Eyes	–	Blepharophimosis; bilateral ptosis; epicanthus inversus	Bilateral ptosis, esotropia	Ptosis left eye, eye motility disturbance	–	–	Deep set	Normal	–	–	Strabismus	Normal
Heart	ASD-I; VSD; leaky AV valves	Normal	ToF	Normal	–	ASD	Normal (VSD spontaneously closed)	Normal	Normal	ASD type II	Normal	–
Dysmorphism	Bitemporal narrowing; short upslanting palpebral fissures; left preauricular tag; lacrimal duct obstruction	Low set, mildly dysplastic ears; overturned helices of the ears; upslanting palpebral fissures; bulbous nose	Sacral dimple; bifid uvula; short neck with excess skin; micrognathia; thin upper lip; double hair whorl	Webbed neck; anteverted nares; thin upper lip; mildly protruding ears; epicanthus; long face; pointed chin; narrow palpebral fissures; smooth philtrum	Deep set eyes; small, upslanting palpebral fissures; protruding, abnormal ears; broad nasal bridge; round nasal tip with prominent glabella, long philtrum, midfacial hypoplasia and prominent mandible	Protruding ears; bulbous nose; deep set eyes; tented upper lip	Sacral dimple; upslanting palpebral fissures; hypertelorism; synophrys; low set ears; webbed neck; small chin	Midfacial hypoplasia; posteriorly rotated, protruding ears; upslanting palpebral fissures; short nose	Short hypoplastic nose; low set and posteriorly rotated small ears; long flat philtrum; small teeth; facial hypotonia	Mildly protruding ears, broad nose, hirsutism; synophrys; low frontal hair line	Dolichocephaly; upslanting palpebral fissures; large low set ears; low nasal bridge; micrognathia	Smooth philtrum; large mouth; posteriorly rotated, protruding and malformed ears; short nose; upslanting, narrow palpebral fissures
Other	–	–	Right cryptorchidism; small corpus callosum; EEG normal	Cryptorchidism	Normal MRI and EEG	Inguinal hernia; tracheobroncho-malacia; recurrent respiratory infections; submucous cleft	Inguinal hernia; pyloric stenosis; hypotonia; high palate	Cerebellar angioma; periventricular leucomalacia; thin hair	Permanent drooling	–	Hypotonia; recurrent ear infections	Mild periventricular heterotopia; precocious puberty

Patients 2,6 57 and 105 were reported previously.
ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; AuSD, autism spectrum disorder; AV, atrioventricular; bcr, breakpoint containing region; EEG, electroencephalogram; H, height; MRI< magnetic resonance imaging; mod, moderate; OFC, occipitofrontal circumference; p, percentile; VSD, ventricular septal defect; W, weight.