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. Author manuscript; available in PMC: 2013 Sep 1.
Published in final edited form as: Am J Med Genet A. 2012 Jul 27;158A(9):2152–2161. doi: 10.1002/ajmg.a.35574

TABLE I.

Clinical Features of Individuals with 10p15.3 Microdeletion.

Group A Group B
Interstitial deletion (smallest to largest) Terminal deletion (smallest to largest) Terminal deletion (smallest to largest)
Patient 10 1 9 4 17 13 6 2 7 16 5 18
Minimal size (kb) 278 292 446 638 154 336 461 487 1,168 1,633 2,250 3,706
Sex (Male:Female) 8:4 F M F M F M M F M M M M
Age at report 1y9m-48y 7y 3y 1y9m 7y 6y1m 12y 5y 1y11m 5y 8y 10y 48y
Birth weight range UK 10th-25th UK UK -2.5SD UK UK 25th UK <10th UK 3rd
Height range <5th 5th 10th 27th -2.7SD 75th 14th 3rd 25th <10th <3rd 5-10th
Weight range <5th 25th <3rd 60th -2SD >97th 9th 3rd 25-50th 90th 4th >97th
Head circumference range UK 80th NL Macro -2.4SD 98th NL 75th 75th 90th NL >97th
Cognitive/behavioral/developmental differences 11/11(100%) Anxiety, Repetitive behaviors DD DD Global DD, ADHD, Aggression ID ID, ADHD, Anger, Aggression Global DD UK Hyperactivity ID, DD, Autism, Stereotypy Mild ID Moderate ID
Speech delay/language disorder 10/10(100%) UK Yes UK Yes Yes Yes Yes Yes Yes Yes Yes Yes
Motor delay 10/10(100%) UK Yes Yes Yes Yes Yes Yes Yes Yes Yes UK Yes
Craniofacial dysmorphism 9/12(75%) Yes Yes Yes No Yes Yes Mild No Yes Yes No Yes
Brain abnormalities 4/6(67%) UK Cortical atrophy UK UK UK UK Very small arachnoid cyst, medial temporal lobe Hydrocephalus No, NL MRI No, NL NMR UK Cortical atrophy and pachygyria, right hemisphere
Hypotonia 7/11(64%) Mild Yes Yes Yes UK No Yes Yes No No No Yes
Hand/foot anomalies 5/11(45%) Hyperextensible hands, Webbed toes 5th finger clinodactyly (BL) No No Over-riding toes and clinodactyly Brittle finger nails, Tapered fingers No No 5th finger clinodactyly (BL), Pes planus, Clinodactyly toes 3,4,5 (BL), Fetal fat pads on all digits No No UK
Seizures 3/7(43%) No Partial complex UK Evaluation pending No No UK UK Partial complex No UK Grand mal, absence, tonic
Cardiac anomalies 2/9(22%) Murmur, resolved Bicuspid aortic valve No No Foramen ovale UK No No Systolic murmur UK No UK
Other features seen in ≤2 patients None High arched palate, Recurrent strep throat, Enlarged tonsils Mild hirsutism, Cervical spine abnormality GERD, Constipation, Hypoplastic nipples, Kyphosis, Frequent respiratory and serous otitis media infections Asthma, Sleep disturbance Oligohydramnios, IUGR, hyper/hypopigmented nevus on abdomen, Mild cleft uvula, Thin/slow growing hair Alopecia totalis, Tremors and incidental myoclonus, Prominent incisors, Stellate iris pattern, Large testes with deep rugae None GERD, Constipation, Sacral dimple, Hydronephrosis, Ventral hernia, Redundant hymenal tissue Diaphragmatic hernia, Mildly narrow palate, Wide-based gait, Shawl scrotum Inverted nipple, Patchy pigment of skin/cafe aulait spots Hypospadia Mild left hemi-paresis since birth, current spastic quadri-plegia

UK = Unknown; NL = Normal; DD = Developmental delay; ADHD = attention deficit hyperactivity disorder; ID= Intellectual disability; MRI = Magnetic resonance imaging; NMR = Nuclear magnetic resonance; BL = bilateral; GERD = gastroesophageal reflux disease; IUGR = intra-uterine growth retardation