MCID: CHR586
MIFTS: 23

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

Categories: Fetal diseases, Rare diseases, Genetic 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
16p11.2-P12.2 Microdeletion Syndrome 12 59
16p11.2p12.2 Microdeletion Syndrome 12 59
Monosomy 16p11.2-P12.2 59
Monosomy 16p11.2p12.2 59
Del(16)(p11.2p12.2) 59

Characteristics:

Orphanet epidemiological data:

59
16p11.2p12.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
variable phenotype

Inheritance:
isolated cases


HPO:

32
chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb:
Onset and clinical course phenotypic variability
Inheritance sporadic


Classifications:



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)

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 low-set ears and frontal bossing

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0010535
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
9 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
10 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
11 short stature 59 32 occasional (7.5%) Frequent (79-30%) HP:0004322
12 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
13 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
14 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
15 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
16 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
17 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
18 flat face 59 32 frequent (33%) Frequent (79-30%) HP:0012368
19 intrauterine growth retardation 59 32 occasional (7.5%) Very frequent (99-80%) HP:0001511
20 abnormality of the pinna 59 32 frequent (33%) Frequent (79-30%) HP:0000377
21 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
22 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
23 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
24 multiple cafe-au-lait spots 59 32 frequent (33%) Frequent (79-30%) HP:0007565
25 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
26 impaired pain sensation 59 32 frequent (33%) Frequent (79-30%) HP:0007328
27 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
28 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
29 bulbous nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000414
30 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
31 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
32 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
33 microretrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000308
34 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
35 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
36 proximal placement of thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009623
37 long nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003189
38 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
39 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
40 tricuspid regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005180
41 absent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005285
42 tics 59 32 occasional (7.5%) Occasional (29-5%) HP:0100033
43 clinodactyly 32 HP:0030084
44 high palate 32 HP:0000218
45 intellectual disability 32 HP:0001249
46 sleep disturbance 59 Occasional (29-5%)
47 feeding difficulties in infancy 32 HP:0008872
48 micrognathia 32 HP:0000347
49 brachydactyly 32 HP:0001156
50 thin upper lip vermilion 32 HP:0000219

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:

41
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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