MCID: CHR586
MIFTS: 28

Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

MalaCards integrated aliases for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:

Name: Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 57 29
Chromosome 16p12.2-P11.2 Deletion Syndrome 57 12 13 15
16p11.2p12.2 Microdeletion Syndrome 12 58
Deletion Syndrome, Chromosome 16p12.2-P11.2 39
16p11.2-P12.2 Microdeletion Syndrome 12
Monosomy 16p11.2p12.2 58
Del(16)(p11.2p12.2) 58

Characteristics:

Orphanet epidemiological data:

58
16p11.2p12.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
variable phenotype

Inheritance:
isolated cases


HPO:

31
chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb:
Inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

OMIM® : 57 The chromosome 16p12.2-p11.2 deletion syndrome is characterized phenotypically by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. Additional features, such as heart defects and short stature, are variable (Ballif et al., 2007; Battaglia et al., 2009). The pericentric region of chromosome 16, specifically involving 16p12-p11, is a structurally complex region enriched in repetitive sequence elements, rendering this region susceptible to deletion or rearrangement (Ballif et al., 2007). There are several phenotypes associated with variation in this region: see 611913 for a deletion or duplication at 16p11.2 associated with autism; see 136570 for discussion of a recurrent 520-kb deletion at 16p12.1 associated with developmental delay and craniofacial dysmorphism; and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay. Battaglia et al. (2009) emphasized that the region at chromosome 16p11.2 that confers susceptibility to autism (AUTS14; see 611913) is located more centromeric to and is distinct from the 16p12.2-p11.2 region involved in the multiple congenital anomalies and intellectual disability phenotype. (613604) (Updated 05-Mar-2021)

MalaCards based summary : Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb, also known as chromosome 16p12.2-p11.2 deletion syndrome, is related to myasthenic syndrome, congenital, 6, presynaptic and auditory system disease. An important gene associated with Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb is DEL16P12.1P11.2 (Chromosome 16p12.2-P11.2 Deletion Syndrome). Affiliated tissues include eye, and related phenotypes are global developmental delay and chronic otitis media

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.

Related Diseases for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Diseases related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 6, presynaptic 9.9 FAM170B ERCC6
2 auditory system disease 9.9 OTOA ERCC6
3 vesicoureteral reflux 1 9.7 FAM170B ERCC6

Symptoms & Phenotypes for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Human phenotypes related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
3 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
4 intrauterine growth retardation 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001511
5 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
6 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
7 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
8 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
9 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
10 short stature 58 31 occasional (7.5%) Frequent (79-30%) HP:0004322
11 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
12 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
13 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
14 multiple cafe-au-lait spots 58 31 frequent (33%) Frequent (79-30%) HP:0007565
15 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
16 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
17 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
18 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
19 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
20 microretrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000308
21 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
22 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
23 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
24 abnormality of the pinna 58 31 frequent (33%) Frequent (79-30%) HP:0000377
25 hypotonia 31 frequent (33%) HP:0001252
26 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
27 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
28 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
29 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
30 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
31 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
32 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
33 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
34 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
35 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
36 proximal placement of thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009623
37 long nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003189
38 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
39 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
40 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
41 tics 58 31 occasional (7.5%) Occasional (29-5%) HP:0100033
42 absent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005285
43 intellectual disability 31 HP:0001249
44 sleep disturbance 58 Occasional (29-5%)
45 high palate 31 HP:0000218
46 muscular hypotonia 58 Frequent (79-30%)
47 feeding difficulties in infancy 31 HP:0008872
48 micrognathia 31 HP:0000347
49 brachydactyly 31 HP:0001156
50 thin upper lip vermilion 31 HP:0000219

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
frontal bossing
flat face
micrognathia
long face
high forehead

Head And Neck Ears:
low-set ears
posteriorly rotated ears
recurrent ear infections
hearing loss (uncommon)

Skeletal Hands:
brachydactyly
camptodactyly
clinodactyly

Neurologic Central Nervous System:
hypotonia
mental retardation
delayed psychomotor development
severe speech impairment

Growth Height:
short stature (in some patients)

Cardiovascular Heart:
congenital cardiac defects (less common)

Head And Neck Nose:
short nose
bulbous nose

Head And Neck Mouth:
open mouth
thin upper lip
high-arched palate

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
deep-set eyes
small eyes

Growth Other:
intrauterine growth retardation (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
no autism

Clinical features from OMIM®:

613604 (Updated 05-Mar-2021)

Drugs & Therapeutics for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Search Clinical Trials , NIH Clinical Center for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Genetic Tests for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Genetic tests related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:

# Genetic test Affiliating Genes
1 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 29

Anatomical Context for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

MalaCards organs/tissues related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:

40
Eye

Publications for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Articles related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:

# Title Authors PMID Year
1
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization. 57
19676056 2009
2
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2. 57
19449418 2009
3
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. 57
17704777 2007
4
Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations. 57
12011165 2002
5
A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2. 61
24259393 2014

Variations for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Expression for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Search GEO for disease gene expression data for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb.

Pathways for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

GO Terms for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Biological processes related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron differentiation GO:0030182 8.62 ERCC6 DRGX

Sources for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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