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