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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.