MCID: CHR499
MIFTS: 17

Chromosome 16q22 Deletion Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 16q22 Deletion Syndrome

MalaCards integrated aliases for Chromosome 16q22 Deletion Syndrome:

Name: Chromosome 16q22 Deletion Syndrome 57 12 29 13 72

Characteristics:

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
chromosome 16q22 deletion syndrome:
Inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0060401
OMIM 57 614541
MedGen 42 C3281152
UMLS 72 C3281152

Summaries for Chromosome 16q22 Deletion Syndrome

OMIM : 57 The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. The phenotypic features and deletion sizes are variable, but deletion of 16q22 appears to be critical for manifestations of the syndrome (summary by Fujiwara et al., 1992). (614541)

MalaCards based summary : Chromosome 16q22 Deletion Syndrome An important gene associated with Chromosome 16q22 Deletion Syndrome is C16DELQ22 (Chromosome 16q22 Deletion Syndrome). Affiliated tissues include bone and heart, and related phenotypes are hypertelorism and low-set ears

Related Diseases for Chromosome 16q22 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 16q22 Deletion Syndrome

Human phenotypes related to Chromosome 16q22 Deletion Syndrome:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 frontal bossing 32 HP:0002007
5 high palate 32 HP:0000218
6 failure to thrive 32 HP:0001508
7 global developmental delay 32 HP:0001263
8 depressed nasal bridge 32 HP:0005280
9 wide nasal bridge 32 HP:0000431
10 micrognathia 32 HP:0000347
11 generalized hypotonia 32 HP:0001290
12 narrow chest 32 HP:0000774
13 epicanthus 32 HP:0000286
14 wormian bones 32 HP:0002645
15 wide intermamillary distance 32 HP:0006610
16 postnatal growth retardation 32 HP:0008897
17 abnormality of the pinna 32 HP:0000377
18 upslanted palpebral fissure 32 HP:0000582
19 high forehead 32 HP:0000348
20 blepharophimosis 32 HP:0000581
21 wide anterior fontanel 32 HP:0000260
22 posteriorly rotated ears 32 HP:0000358
23 poor suck 32 HP:0002033
24 short palpebral fissure 32 HP:0012745
25 small for gestational age 32 HP:0001518

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds
short palpebral fissures
upslanting palpebral fissures

Head And Neck Neck:
short neck

Growth Other:
failure to thrive
postnatal growth retardation

Skeletal Skull:
wormian bones
large anterior fontanel
diastasis of cranial sutures

Neurologic Central Nervous System:
hypotonia
delayed psychomotor development

Chest Breasts:
widely spaced nipples

Head And Neck Nose:
broad flat nasal bridge

Skeletal Hands:
flexed fingers

Growth Height:
low birth length

Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysplastic ears

Head And Neck Head:
frontal bossing
high forehead

Head And Neck Face:
micrognathia

Abdomen Gastrointestinal:
poor suck

Head And Neck Mouth:
high-arched palate

Chest External Features:
narrow thorax

Growth Weight:
low birth weight

Skeletal Feet:
broad first toe

Clinical features from OMIM:

614541

Drugs & Therapeutics for Chromosome 16q22 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 16q22 Deletion Syndrome

Genetic Tests for Chromosome 16q22 Deletion Syndrome

Genetic tests related to Chromosome 16q22 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 16q22 Deletion Syndrome 29

Anatomical Context for Chromosome 16q22 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 16q22 Deletion Syndrome:

41
Bone, Heart

Publications for Chromosome 16q22 Deletion Syndrome

Articles related to Chromosome 16q22 Deletion Syndrome:

# Title Authors PMID Year
1
Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. 8
17022082 2006
2
High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. 8
8230159 1993
3
Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome. 8
1605249 1992
4
16q21 is critical for 16q deletion syndrome. 8
3378367 1988
5
Monosomy 16q: a distinct syndrome. Apropos of a de novo del(16) (q2100q2300). 8
4028506 1985
6
Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21). 8
914282 1977

Variations for Chromosome 16q22 Deletion Syndrome

Expression for Chromosome 16q22 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 16q22 Deletion Syndrome.

Pathways for Chromosome 16q22 Deletion Syndrome

GO Terms for Chromosome 16q22 Deletion Syndrome

Sources for Chromosome 16q22 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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