Table 1

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

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%)


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

McInnes et al. Molecular Autism 2010 1:5   doi:10.1186/2040-2392-1-5

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