MCID: CHR266
MIFTS: 26

Chromosome 8p23.1 Deletion

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Chromosome 8p23.1 Deletion

Summaries for Chromosome 8p23.1 Deletion

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 251071Disease definition8p23.1 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.EpidemiologyThe 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 descriptionThe 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.EtiologyThe 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 methodsDiagnosis 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 diagnosisDifferential diagnosis includes monosomy 22q11 (velocardiofacial syndrome; see this term). Accurate chromosomal analysis confirms the differential diagnosis.Antenatal diagnosisPrenatal diagnosis is possible by amniocentesis or chorionic villus sampling and molecular cytogenetic analysis.Genetic counselingGenetic 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 treatmentManagement 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.PrognosisLife 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 8p23.1 duplication syndrome and strabismus. 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 cryptorchidism and hypospadias

Related Diseases for Chromosome 8p23.1 Deletion

Diseases related to Chromosome 8p23.1 Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 8p23.1 duplication syndrome 11.1
2 strabismus 10.2
3 microcephaly 10.2
4 hypotonia 10.2

Symptoms & Phenotypes for Chromosome 8p23.1 Deletion

Human phenotypes related to Chromosome 8p23.1 Deletion:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
2 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
7 full cheeks 59 32 occasional (7.5%) Occasional (29-5%) HP:0000293
8 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
9 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
10 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
11 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
12 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
13 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
14 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
15 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
16 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
17 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
18 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
19 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
20 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
21 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
22 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
23 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
24 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
25 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
26 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
27 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
28 transposition of the great arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0001669
29 abnormal aortic morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001679
30 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
31 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
32 poor speech 59 32 frequent (33%) Frequent (79-30%) HP:0002465
33 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
34 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
35 hypoplastic left heart 59 32 occasional (7.5%) Occasional (29-5%) HP:0004383
36 pulmonary artery stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0004415
37 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
38 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
39 atrioventricular canal defect 59 32 frequent (33%) Frequent (79-30%) HP:0006695
40 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
41 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
42 proximal placement of thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009623
43 broad hallux phalanx 59 32 occasional (7.5%) Occasional (29-5%) HP:0010059
44 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
45 enlarged thorax 59 32 frequent (33%) Frequent (79-30%) HP:0100625
46 behavioral abnormality 59 Frequent (79-30%)
47 growth delay 59 Frequent (79-30%)
48 abnormality of the cardiac septa 59 Frequent (79-30%)
49 malformation of the heart and great vessels 59 Frequent (79-30%)
50 hyperactivity 32 HP:0000752

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

Anatomical Context for Chromosome 8p23.1 Deletion

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

41
Heart, Eye

Publications for Chromosome 8p23.1 Deletion

Articles related to Chromosome 8p23.1 Deletion:

# Title Authors Year
1
Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. ( 21834050 )
2011
2
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. ( 19606479 )
2009

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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