15q11q13 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AUTS4, INCLUDED
DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4, INCLUDED
15q11-q13 microduplication syndrome
Dup(15)(q11q13)
15q11-q13 duplication syndrome
15q11q13 duplication syndrome
Trisomy 15q11q13
Trisomy 15q11-q13
CHROMOSOME 15q11.2 MICRODUPLICATION SYNDROME, INCLUDED
Number of Symptoms 39
OrphanetNr: 238446
OMIM Id: 608636
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the long arm of chromosome 15
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
2
 (HPO:0000298) Mask-like facies Occasional [Orphanet] 44 / 7739
3
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
4
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
5
 (HPO:0000657) Oculomotor apraxia Frequent [Orphanet] 54 / 7739
6
 (HPO:0001250) Seizures Frequent [Orphanet] frequent [HPO] 1245 / 7739
7
 (HPO:0000728) Impaired ability to form peer relationships 8 / 7739
8
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
9
 (HPO:0000732) Inflexible adherence to routines or rituals 11 / 7739
10
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
11
 (HPO:0002353) EEG abnormality frequent [HPO] 188 / 7739
12
 (HPO:0000717) Autism Frequent [Orphanet] 108 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0000758) Impaired use of nonverbal behaviors 11 / 7739
15
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
16
 (HPO:0000721) Lack of spontaneous play 11 / 7739
17
 (HPO:0000733) Stereotypy 58 / 7739
18
 (HPO:0000735) Impaired social interactions 20 / 7739
19
 (HPO:0000750) Delayed speech and language development 197 / 7739
20
 (HPO:0000723) Restrictive behavior 11 / 7739
21
 (HPO:0003144) Increased serum serotonin frequent [HPO] 7 / 7739
22
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
23
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
24
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
25
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
26
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
27
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
28
 (HPO:0001426) Multifactorial inheritance 37 / 7739
29
 (OMIM) Impaired language development 6 / 7739
30
 (OMIM) Seizures in 15-30% 7 / 7739
31
 (OMIM) Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures 11 / 7739
32
 (OMIM) Mental retardation in 75% 7 / 7739
33
 (OMIM) EEG abnormalities in 20-50% 6 / 7739
34
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
35
 (OMIM) Increased serum serotonin in 25% 7 / 7739
36
 (HPO:0003745) Sporadic 131 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
 (HPO:0011463) Childhood onset 65 / 7739
39
 (OMIM) Stereotyped, repetitive behavior 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bundey et al. (1994) reported a boy with mental retardation, infantile autism, ataxia, and seizures, who had an extensive interstitial duplication of 15q11-q13, including the critical regions for PWS and AS on the maternally derived chromosome. Clayton-Smith et ...
Molecular genetics OMIM Among 166 unrelated Japanese patients with autism and 412 controls, Tochigi et al. (2007) found no association with SNPs in 2 of the GABA receptor genes mapping to chromosome 15q11-q13: GABRA5 (137142) and GABRG3 (600233). However, there was ...