1q21.1 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Dup(1)(q21.1)
Trisomy 1q21.1
Number of Symptoms 39
OrphanetNr: 250994
OMIM Id: 612475
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the long arm of chromosome 1
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
4
 (HPO:0004482) Relative macrocephaly 44 / 7739
5
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
6
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
7
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
8
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
9
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
10
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
11
 (HPO:0100753) Schizophrenia 20 / 7739
12
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
13
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
14
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
15
 (HPO:0000738) Hallucinations Occasional [Orphanet] 60 / 7739
16
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
17
 (HPO:0001250) Seizures Occasional [Orphanet] rare [HPO:skoehler] 1245 / 7739
18
 (HPO:0001328) Specific learning disability 114 / 7739
19
 (HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
20
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
21
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
22
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
23
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
24
 (HPO:0100555) Asymmetric growth Occasional [Orphanet] 25 / 7739
25
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
26
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
27
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
28
 (HPO:0001355) Megalencephaly 39 / 7739
29
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
30
 (OMIM) Hypoplasia of corpus callosum and cerebellar vermis 1 / 7739
31
 (OMIM) Normal height 8 / 7739
32
 (HPO:0003745) Sporadic 131 / 7739
33
 (OMIM) Mental retardation, mild-moderate 6 / 7739
34
 (OMIM) Mild dysmorphism 2 / 7739
35
 (HPO:0003829) Incomplete penetrance 85 / 7739
36
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
39
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among 8 patients with duplication of an approximately 1.35-Mb region of chromosome 1q21.1, identified through a screen of 5,218 patients with unexplained mental retardation, autism, or congenital anomalies, Mefford et al. (2008) observed that 4 of the 8 ...
Molecular genetics OMIM Mefford et al. (2008) identified duplication of chromosome 1q21.1 in 9 children with mental retardation or autism spectrum disorder and other variable features out of a sample of 5,218 patients. The duplication was then identified in 3 additional ...