Skip to main content

Table 1 Clinical features in Patient AU008 compared to 13 individuals with 15q24 deletions reported in the literature

From: A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

  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%)
  1. CNS, central nervous system; CT, computed tomography; MRI, magnetic resonance imaging.