MCID: CHR586
MIFTS: 22

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

Categories: 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 58 30
Chromosome 16p12.2-P11.2 Deletion Syndrome 58 12 13
16p11.2p12.2 Microdeletion Syndrome 12 60
16p11.2-P12.2 Microdeletion Syndrome 12
Monosomy 16p11.2p12.2 60
Del(16)(p11.2p12.2) 60

Characteristics:

Orphanet epidemiological data:

60
16p11.2p12.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
variable phenotype

Inheritance:
isolated cases


HPO:

33
chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb:
Inheritance sporadic


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb, is also known as chromosome 16p12.2-p11.2 deletion syndrome. 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 heart and eye, and related phenotypes are chronic otitis media and global developmental delay

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

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:

60 33 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
4 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
5 intrauterine growth retardation 60 33 occasional (7.5%) Very frequent (99-80%) HP:0001511
6 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
7 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
8 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
9 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
10 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
11 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
12 short stature 60 33 occasional (7.5%) Frequent (79-30%) HP:0004322
13 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
14 flat face 60 33 frequent (33%) Frequent (79-30%) HP:0012368
15 abnormality of the pinna 60 33 frequent (33%) Frequent (79-30%) HP:0000377
16 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
17 multiple cafe-au-lait spots 60 33 frequent (33%) Frequent (79-30%) HP:0007565
18 open mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000194
19 impaired pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0007328
20 bilateral single transverse palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0007598
21 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
22 microretrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000308
23 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
24 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
25 hyperactivity 60 33 frequent (33%) Frequent (79-30%) HP:0000752
26 sleep apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0010535
27 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
28 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
29 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
30 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
31 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
32 short palm 60 33 occasional (7.5%) Occasional (29-5%) HP:0004279
33 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
34 bulbous nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0000414
35 high forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000348
36 hypotelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000601
37 proximal placement of thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0009623
38 long nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003189
39 oral cleft 60 33 occasional (7.5%) Occasional (29-5%) HP:0000202
40 tricuspid regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005180
41 absent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005285
42 tics 60 33 occasional (7.5%) Occasional (29-5%) HP:0100033
43 clinodactyly 33 HP:0030084
44 high palate 33 HP:0000218
45 intellectual disability 33 HP:0001249
46 sleep disturbance 60 Occasional (29-5%)
47 feeding difficulties in infancy 33 HP:0008872
48 micrognathia 33 HP:0000347
49 brachydactyly 33 HP:0001156
50 thin upper lip vermilion 33 HP:0000219

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
recurrent ear infections
hearing loss (uncommon)

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly

Abdomen Gastrointestinal:
feeding difficulties

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 Face:
frontal bossing
micrognathia
flat face
long face
high forehead

Head And Neck Nose:
short nose
bulbous nose

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

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

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 30

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:

42
Heart, Eye

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

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

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

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75 UMLS via Orphanet
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