MCID: CHR266
MIFTS: 27

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 : 49 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. Last updated: 12/1/2012

MalaCards based summary : Chromosome 8p23.1 Deletion, also known as 8p23.1 microdeletion syndrome, is related to strabismus and branchiootic syndrome 1, and has symptoms including cryptorchidism, hypospadias and high palate. An important gene associated with Chromosome 8p23.1 Deletion is GATA4 (GATA Binding Protein 4). Affiliated tissues include heart and eye.

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 strabismus 10.2
2 branchiootic syndrome 1 10.2
3 microcephaly 10.2
4 hypotonia 10.2
5 heart disease 9.9

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:

55 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
2 hypospadias 55 31 frequent (33%) Frequent (79-30%) HP:0000047
3 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
4 thin vermilion border 55 31 occasional (7.5%) Occasional (29-5%) HP:0000233
5 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
6 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
7 full cheeks 55 31 occasional (7.5%) Occasional (29-5%) HP:0000293
8 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
9 high forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000348
10 low-set ears 55 31 frequent (33%) Frequent (79-30%) HP:0000369
11 prominent nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000426
12 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
13 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
14 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
15 deeply set eye 55 31 occasional (7.5%) Occasional (29-5%) HP:0000490
16 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
17 upslanted palpebral fissure 55 31 occasional (7.5%) Occasional (29-5%) HP:0000582
18 congenital diaphragmatic hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000776
19 tapered finger 55 31 frequent (33%) Frequent (79-30%) HP:0001182
20 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
21 intellectual disability, mild 55 31 hallmark (90%) Very frequent (99-80%) HP:0001256
22 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
23 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
24 obesity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001513
25 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
26 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
27 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
28 transposition of the great arteries 55 31 occasional (7.5%) Occasional (29-5%) HP:0001669
29 abnormal aortic morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0001679
30 pes planus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001763
31 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
32 poor speech 55 31 frequent (33%) Frequent (79-30%) HP:0002465
33 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
34 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
35 hypoplastic left heart 55 31 occasional (7.5%) Occasional (29-5%) HP:0004383
36 pulmonary artery stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0004415
37 biparietal narrowing 55 31 frequent (33%) Frequent (79-30%) HP:0004422
38 wide intermamillary distance 55 31 frequent (33%) Frequent (79-30%) HP:0006610
39 atrioventricular canal defect 55 31 frequent (33%) Frequent (79-30%) HP:0006695
40 attention deficit hyperactivity disorder 55 31 frequent (33%) Frequent (79-30%) HP:0007018
41 external ear malformation 55 31 frequent (33%) Frequent (79-30%) HP:0008572
42 proximal placement of thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0009623
43 broad hallux phalanx 55 31 occasional (7.5%) Occasional (29-5%) HP:0010059
44 broad thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0011304
45 enlarged thorax 55 31 frequent (33%) Frequent (79-30%) HP:0100625
46 behavioral abnormality 55 Frequent (79-30%)
47 growth delay 55 Frequent (79-30%)
48 abnormality of the cardiac septa 55 Frequent (79-30%)
49 malformation of the heart and great vessels 55 Frequent (79-30%)
50 hyperactivity 31 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

Genetic tests related to Chromosome 8p23.1 Deletion:

# Genetic test Affiliating Genes
1 Chromosome 8, Monosomy 8p23 1 28

Anatomical Context for Chromosome 8p23.1 Deletion

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

38
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

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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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