Table 1 |
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Clinical features in Patient AU008 compared to 13 individuals with 15q24 deletions reported in the literature |
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|
Present case |
13 previously reported cases |
Toatal (%) |
|
|
|
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|
Deletion 15q24 |
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|
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 |
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|
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 |
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|
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 |
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|
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 |
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|
Scoliosis |
Mild scoliosis |
4/13 |
5/14 (36%) |
|
Joint laxity |
+ |
7/12 |
8/13 (62%) |
|
Chest abnormalities |
- |
3/12 |
3/13 (23%) |
|
Clubfeet |
- |
||
|
Other |
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|
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%) |
|
|
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|
CNS, central nervous system; CT, computed tomography; MRI, magnetic resonance imaging. |
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|
McInnes et al. Molecular Autism 2010 1:5 doi:10.1186/2040-2392-1-5 |
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