|
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%)
|
