8p23.1 duplication syndrome

8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).



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Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(47.6%)		 17940555
 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.
Eur J Hum Genet. 2008;16(1):18-27.
Syndactyly Prominent forehead
GATA4
Adult Chromosome Aberrations Chromosomes, Human, Pair 8 Cytogenetics Females Fluorescent in Situ Hybridization Gene Dosage Homo sapiens Infant Infant, Newborn Male Molecular Biology Oligonucleotide Array Sequence Analysis Phenotype Pregnancy
2
(45.9%)		 23345203
 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Barber JC, Rosenfeld JA, Foulds N, Laird S, Bateman MS, Thomas NS, Baker S, Maloney VK, Anilkumar A, Smith WE, Banks V, Ellingwood S, Kharbutli Y, Mehta L, Eddleman KA, Marble M, Zambrano R, Crolla JA, Lamb AN.
Am J Med Genet A. 2013;161A(3):487-500.
Macrocephaly Cleft lip
GATA4 MIR124-1 MIR598 SOX7 TNKS XKR6
Abnormal Karyotype Adult Child Chromosomes, Human, Pair 8 Developmental Disabilities Females Homo sapiens Infant Learning Disabilities Male Syndrome Trisomy
3
(4.0%)		 25520754
(4268894)
 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp.
Weber A, Kohler A, Hahn A, Muller U.
Mol Cytogenet. 2014;7(1):94.
Intellectual disability
MBP MIR124-1 MIR598 SOX7 TNKS
3
(4.0%)		 23782367
 Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome.
Dai Y, Yang J, Chen Y, Bao L, Cheng Q.
Pediatr Int. 2013;55(3):368-70.
Growth delay
Child Chromosome Deletion Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 8 Females Genome-Wide Association Study Homo sapiens Oligonucleotide Array Sequence Analysis Phenotype Trisomy Wolf-Hirschhorn Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0002463 Language impairment Frequent (79-30%)
HP:0002553 Highly arched eyebrow Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0000126 Hydronephrosis Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000343 Long philtrum Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000445 Wide nose Occasional (29-5%)
HP:0000490 Deeply set eye Occasional (29-5%)
HP:0000846 Adrenal insufficiency Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001636 Tetralogy of Fallot Occasional (29-5%)
HP:0001642 Pulmonic stenosis Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0012471 Thick vermilion border Occasional (29-5%)
HP:0100777 Exostoses Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0011220 Prominent forehead 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID