1q21.1 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 1q21.1
Del(1)(q21)
Number of Symptoms 64
OrphanetNr: 250989
OMIM Id: 612474
ICD-10: Q93.5
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 deletion of the long arm of chromosome 1
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
2
(HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
3
(HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
4
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
5
(HPO:0000414) Bulbous nose 63 / 7739
6
(HPO:0010296) Ankyloglossia Occasional [Orphanet] 11 / 7739
7
(HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
8
(HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
9
(HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
10
(HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
11
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
12
(HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
13
(HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
14
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
15
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
16
(HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
17
(HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
18
(HPO:0000540) Hypermetropia Occasional [Orphanet] 99 / 7739
19
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
20
(HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
21
(HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
22
(HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
23
(HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
24
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
25
(HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
26
(HPO:0100753) Schizophrenia 20 / 7739
27
(HPO:0001249) Intellectual disability 1089 / 7739
28
(HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
29
(HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
30
(HPO:0001829) Foot polydactyly Occasional [Orphanet] 41 / 7739
31
(HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
32
(HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
33
(HPO:0011304) Broad thumb 39 / 7739
34
(HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
35
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
36
(HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
37
(HPO:0010055) Broad hallux Occasional [Orphanet] 56 / 7739
38
(HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
39
(HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
40
(HPO:0001773) Short foot Occasional [Orphanet] 86 / 7739
41
(HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
42
(HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
43
(HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
44
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
45
(HPO:0001680) Coarctation of aorta 57 / 7739
46
(HPO:0001660) Truncus arteriosus 21 / 7739
47
(HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
48
(HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
49
(HPO:0001669) Transposition of the great arteries 36 / 7739
50
(HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
51
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
52
(HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
53
(OMIM) Normal neurological development is possible 1 / 7739
54
(OMIM) Normal or reduced 1 / 7739
55
(HPO:0003829) Incomplete penetrance 85 / 7739
56
(OMIM) Broad halluces 12 / 7739
57
(OMIM) Bicuspid aortic valve with aneurysm 1 / 7739
58
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
59
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
60
(HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
61
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
62
(OMIM) Mental retardation, mild to moderate 33 / 7739
63
(OMIM) Duplicated or bifid halluces (minority) 1 / 7739
64
(OMIM) Mild dysmorphism 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among 21 patients with a 1.35-Mb deletion in chromosome 1q21.1, Mefford et al. (2008) found considerable variability in the level of phenotypic expression of the microdeletion; phenotypes included mild to moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. ...
Molecular genetics OMIM By screening 5,218 patients with unexplained mental retardation, autism, or congenital anomalies for the presence of microdeletions or microduplications in chromosome 1q21.1, Mefford et al. (2008) identified 25 individuals with a recurrent 1.35-Mb deletion. Of the 21 probands ...
Diagnosis GeneReviews Because of the variability of the phenotypic features, the diagnosis of the 1q21.1 microdeletion is often made during chromosomal microarray analysis (CMA). Features that should prompt consideration of this diagnosis include:...
Clinical Description GeneReviews Individuals with the 1q21.1 microdeletion may have a wide range of clinical manifestations. The most common findings include developmental delay and mildly dysmorphic facies. However, there is not a clinically recognizable syndrome, as a subset of persons with the deletion do not have obvious clinical findings. ...
Differential Diagnosis GeneReviews The 22q11.2 microdeletion syndrome is the most common microdeletion syndrome and has several features that overlap with those seen in individuals with the recurrent distal 1.35-Mb 1q21.1 deletion: developmental delays, learning disabilities (though not in 1q21.1 microdeletions the predominant nonverbal learning disability seen in 22q11.2 microdeletions), intellectual disability, behavioral abnormalities, short stature, eye abnormalities, cardiac defects, and schizophrenia. However, persons with a distal 1.35-Mb 1q21.1 deletion do not have the typical facial characteristics seen in the 22q11.2 microdeletion syndrome. Brunet et al [2009] identified two individuals with 1q21.1 copy number abnormalities who had clinical findings suggestive of a 22q11.2 microdeletion. One individual (who was previously reported in Mefford et al [2008]) had a duplication of the region that is typically deleted in individuals with thrombocytopenia absent radius (TAR) syndrome and a microdeletion of distal 1.35-Mb 1q21.1 on the same chromosome; the other had a duplication of the TAR-associated region only....
Management GeneReviews To establish the extent of disease and needs of an individual diagnosed with the recurrent distal 1.35-Mb deletion in the 1q21.1 region, the following evaluations should be considered:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....