MCID: CHR266
MIFTS: 26

Chromosome 8p23.1 Deletion

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 8p23.1 Deletion

Summaries for Chromosome 8p23.1 Deletion

NIH Rare Diseases : 54 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 global developmental delay and intellectual disability, mild

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 11.3
2 strabismus 10.3
3 spondylocostal dysostosis with anal atresia and urogenital anomalies 10.3
4 microcephaly 10.3
5 hypotonia 10.3
6 heart disease 10.1
7 diaphragmatic hernia, congenital 10.0
8 xp22.3 microdeletion syndrome 10.0

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:

60 33 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
3 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
4 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
5 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
6 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
7 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
8 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
9 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
10 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
11 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
12 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
13 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
14 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
15 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
16 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
17 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
18 enlarged thorax 60 33 frequent (33%) Frequent (79-30%) HP:0100625
19 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
20 external ear malformation 60 33 frequent (33%) Frequent (79-30%) HP:0008572
21 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
22 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
23 pulmonary artery stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0004415
24 tapered finger 60 33 frequent (33%) Frequent (79-30%) HP:0001182
25 atrioventricular canal defect 60 33 frequent (33%) Frequent (79-30%) HP:0006695
26 poor speech 60 33 frequent (33%) Frequent (79-30%) HP:0002465
27 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
28 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
29 broad hallux phalanx 60 33 occasional (7.5%) Occasional (29-5%) HP:0010059
30 broad thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0011304
31 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
32 full cheeks 60 33 occasional (7.5%) Occasional (29-5%) HP:0000293
33 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
34 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
35 hypoplastic left heart 60 33 occasional (7.5%) Occasional (29-5%) HP:0004383
36 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
37 deeply set eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0000490
38 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
39 upslanted palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0000582
40 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
41 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
42 proximal placement of thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0009623
43 congenital diaphragmatic hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000776
44 abnormal aortic morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001679
45 transposition of the great arteries 60 33 occasional (7.5%) Occasional (29-5%) HP:0001669
46 intellectual disability 33 HP:0001249
47 behavioral abnormality 60 Frequent (79-30%)
48 malformation of the heart and great vessels 60 Frequent (79-30%)
49 growth delay 60 Frequent (79-30%)
50 atrial septal defect 33 HP:0001631

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:

42
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
Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype. ( 15957183 )
2005

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
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17 EFO
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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