Present case | 13 previously reported cases | Toatal (%) | |
---|---|---|---|
Deletion 15q24 | |||
Length, MB | 3.06 | 1.7 to 4.3 | |
Inheritance | De novo | 11 de novo (2 unknown) | |
Parental origin | Paternal | 2 paternal, 3 maternal (8 unknown) | |
Gender | M | 11 M, 2 F | |
Behavioral abnormalities | |||
Developmental delay/ID | Moderate ID | 13/13 | 14/14 (100%) |
Impaired speech development | Language regression; 2 words at 5 y | 7/9 | 8/10 (80%) |
ASD | Autism | 2 ASD, 1 autistic features/13 | 3/14 (21%) |
Developmental regression | + | 1/12 | 2/13 (15%) |
Happy facial expression | Constant smiling | 3/12 | 4/13 (31%) |
Hyperactivity | + | 2/12 | 3/13 (23%) |
Aggressiveness | + | 2/12 | 3/13 (23%) |
Sleep disturbances | + | 1/12 | 2/13 (15%) |
Growth | |||
Low birth weight | + | 4/12 | 5/13 (38%) |
Pesistent growth retardation | - | 5/12 | 5/13 (38%) |
Obesity | - | 3/12 | 3/13 (23%) |
Head circumference <3rd percentile | - | 3/12 | 3/13 (23%) |
Facial dysmorphism | + | 13/13 | 14/14 (100%) |
High anterior hair line | + | 8/12 | 9/13 (69%) |
Long narrow face | + | 4/12 | 5/13 (38%) |
Hypertelorism | + | 7/12 | 8/13 (62%) |
Broad medial eyebrows | + | 6/12 | 7/13 (54%) |
Epicanthus | + | 6/12 | 7/13 (54%) |
Full lower lip | + | 5/12 | 6/13 (46%) |
Widely spaced teeth | + | 1/12 | 2/13 (15%) |
Ear abnormalities | Protuberant ears | 8/12 | 9/13 (69%) |
Facial asymmetry | - | 4/12 | 4/13 (31%) |
Down-slanting palpebral fissures | - | 7/12 | 7/13 (54%) |
Deep set eyes | - | 2/12 | 2/13 (15%) |
Broad nasal base | - | 4/12 | 4/13 (31%) |
Flaring alae nasi | - | 3/12 | 3/13 (23%) |
Hypoplastic alae nasi | - | 2/12 | 2/13 (15%) |
Depressed nasal bridge | - | 2/12 | 2/13 (15%) |
Long and/or smooth philtrum | - | 8/12 | 8/13 (62%) |
Small mouth | - | 3/12 | 3/13 (23%) |
High arched palate | - | 2/12 | 2/13 (15%) |
Eye abnormalities | + | 7/12 | 8/13 (62%) |
Nystagmus | + | 1/12 | 2/13 (15%) |
Strabismus | - | 6/12 | 6/13 (46%) |
Microphtalmia | - | 1/12 | 1/13 (8%) |
Anisocoria | - | 1/12 | 1/13 (8%) |
Digital abnormalities | + | 10/12 | 11/13 (85%) |
Single palmar crease | Right single palmar crease | 2/12 | 3/13 (23%) |
Syndactyly | Left 2-3 syndactyly of toes | 1/12 | 2/13 (15%) |
Clinodactyly | - | 3/12 | 3/13 (23%) |
Long slender fingers | - | 2/12 | 2/13 (15%) |
Brachydactyly | - | 2/12 | 2/13 (15%) |
Abnormal thumbs | - | 2/12 | 2/13 (15%) |
Small hands | - | 2/12 | 2/13 (15%) |
Proximally implanted thumbs | - | 2/12 | 2/13 (15%) |
Neurological abnormalities | |||
CNS abnormality by MRI/CT | Minimal cortical atrophy on CT | 4/7 | 5/8 (63%) |
Hypotonia | Not reported but probable | 8/12 | 9/13 (69%) |
Seizures | - | 1/12 | 1/13 (8%) |
Genital abnormalities | - | 8/10 M | 8/11 (73%) |
Hypospadias | - | 4/10 M | 4/11 (36%) |
Micropenis | - | 4/10 M | 4/11 (36%) |
Cryptorchidism | - | 2/10 M | 2/11 (18%) |
Musculoskeletal abnormalities | |||
Scoliosis | Mild scoliosis | 4/13 | 5/14 (36%) |
Joint laxity | + | 7/12 | 8/13 (62%) |
Chest abnormalities | - | 3/12 | 3/13 (23%) |
Clubfeet | - | ||
Other | |||
Polyhydramminos | + | 0/12 | 1/13 (8%) |
Recurrent infections | Recurrent respiratory infections | 6/12 | 7/13 (54%) |
Unusual voice | - | 4/12 | 4/13 (31%) |
Diaphragmatic hernia | - | 3/13 | 3/14 (21%) |
Inguinal hernia | - | 3/12 | 3/13 (15%) |
Growth hormone difficency | - | 2/12 | 2/13 (15%) |
Bowel atresia | - | 2/12 | 2/13 (15%) |
Hypogonadism | - | 2/12 | 2/13 (15%) |
Hearing loss | - | 2/12 | 2/13 (15%) |
Café-au-lait spots | - | 2/12 | 2/13 (15%) |