MCID: CHR266
MIFTS: 25

Chromosome 8p23.1 Deletion

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 8p23.1 Deletion

MalaCards integrated aliases for Chromosome 8p23.1 Deletion:

Name: Chromosome 8p23.1 Deletion 52
8p23.1 Microdeletion Syndrome 52 58 29
Monosomy 8p23.1 52 58
Chromosome 8, Monosomy 8p23 1 71
8p23.1 Deletion 52
Deletion 8p23.1 52
Del(8)(p23.1) 58

Characteristics:

Orphanet epidemiological data:

58
8p23.1 microdeletion syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 8p23.1 Deletion

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251071 Definition 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects . Epidemiology The prevalence is unknown but 8p23.1 deletions are rare. To date, over 50 cases of interstitial or terminal 8p23.1 have been reported without a notable gender discrepancy. Clinical description The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most common manifestations include prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures , behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly , high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported. Some affected individuals have been reported to have normal intelligence. Etiology The 8p23.1 deletion is likely to arise through non-allelic homologous recombination mediated by flanking low-copy repeats (LCRs), explaing the common size of approximately 3.4 Mb. The congenital heart defects and diaphragmatic hernia are most likely explained by haploinsufficiency for GATA4. Diagnostic methods Diagnosis is based on clinical manifestations leading to chromosomal analysis. 8p23.1 deletions are often missed by standard karyotyping, and mostly detected by molecular karyotyping. Molecular techniques may be used for the genetic characterization of the deletion (FISH, MLPA, aCGH). Differential diagnosis Differential diagnosis includes monosomy 22q11 (velocardiofacial syndrome ; see this term). Accurate chromosomal analysis confirms the differential diagnosis. Antenatal diagnosis Prenatal diagnosis is possible by amniocentesis or chorionic villus sampling and molecular cytogenetic analysis. Genetic counseling Genetic counseling is recommended. Most 8p23.1 deletions occur de novo . However, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child. Management and treatment Management involves assessment, treatment and a regular follow-up by appropriate specialists, including a general practitioner, pediatrician and cardiologists . Early diagnosis and access to major developmental therapies aiming at obtaining the best developmental outcome have been proven beneficial. Prognosis Life expectancy is considered normal provided that there is no major congenital heart anomaly or a diaphragmatic hernia. Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 8p23.1 Deletion, also known as 8p23.1 microdeletion syndrome, is related to ebstein anomaly and 8p23.1 duplication syndrome. An important gene associated with Chromosome 8p23.1 Deletion is GATA4 (GATA Binding Protein 4). Affiliated tissues include heart and eye, and related phenotypes are global developmental delay and intellectual disability, mild

Related Diseases for Chromosome 8p23.1 Deletion

Graphical network of the top 20 diseases related to Chromosome 8p23.1 Deletion:



Diseases related to Chromosome 8p23.1 Deletion

Symptoms & Phenotypes for Chromosome 8p23.1 Deletion

Human phenotypes related to Chromosome 8p23.1 Deletion:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
5 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
6 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
7 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
10 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
11 enlarged thorax 58 31 frequent (33%) Frequent (79-30%) HP:0100625
12 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
13 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
14 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
15 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
16 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
17 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
18 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
19 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
20 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
21 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
22 pulmonary artery stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0004415
23 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
24 atrioventricular canal defect 58 31 frequent (33%) Frequent (79-30%) HP:0006695
25 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
26 seizure 31 frequent (33%) HP:0001250
27 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
28 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
29 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
30 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
31 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
32 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
33 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
34 hypoplastic left heart 58 31 occasional (7.5%) Occasional (29-5%) HP:0004383
35 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
36 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
37 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
38 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
39 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
40 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
41 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
42 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
43 proximal placement of thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009623
44 abnormal aortic morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001679
45 transposition of the great arteries 58 31 occasional (7.5%) Occasional (29-5%) HP:0001669
46 intellectual disability 31 HP:0001249
47 behavioral abnormality 58 Frequent (79-30%)
48 seizures 58 Frequent (79-30%)
49 malformation of the heart and great vessels 58 Frequent (79-30%)
50 growth delay 58 Frequent (79-30%)

Drugs & Therapeutics for Chromosome 8p23.1 Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 8p23.1 Deletion

Genetic Tests for Chromosome 8p23.1 Deletion

Genetic tests related to Chromosome 8p23.1 Deletion:

# Genetic test Affiliating Genes
1 8p23.1 Microdeletion Syndrome 29

Anatomical Context for Chromosome 8p23.1 Deletion

MalaCards organs/tissues related to Chromosome 8p23.1 Deletion:

40
Heart, Eye

Publications for Chromosome 8p23.1 Deletion

Articles related to Chromosome 8p23.1 Deletion:

# Title Authors PMID Year
1
[Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion]. 61
31922595 2020
2
Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. 61
21834050 2011

Variations for Chromosome 8p23.1 Deletion

Expression for Chromosome 8p23.1 Deletion

Search GEO for disease gene expression data for Chromosome 8p23.1 Deletion.

Pathways for Chromosome 8p23.1 Deletion

GO Terms for Chromosome 8p23.1 Deletion

Sources for Chromosome 8p23.1 Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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