DUP
MCID: CHR368
MIFTS: 21

Chromosome Xp11.23-P11.22 Duplication Syndrome (DUP)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome Xp11.23-P11.22 Duplication Syndrome

MalaCards integrated aliases for Chromosome Xp11.23-P11.22 Duplication Syndrome:

Name: Chromosome Xp11.23-P11.22 Duplication Syndrome 57 12 20 29 13 70
Microduplication Xp11.22-P11.23 Syndrome 12 20
Microduplication Xp11.22p11.23 Syndrome 20 58
Trisomy Xp11.22-P11.23 12 20
Trisomy Xp11.22p11.23 20 58
Dup 20 58
Syndrome, Duplication, Chromosome Xp11.23-P11.22 39

Characteristics:

Orphanet epidemiological data:

58
microduplication xp11.22p11.23 syndrome
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable phenotype

Inheritance:
x-linked dominant


HPO:

31
chromosome xp11.23-p11.22 duplication syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome Xp11.23-P11.22 Duplication Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217377 Definition Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. Epidemiology To date, twelve patients have been described. Clinical description All patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, 5th toe hypoplasia, and syndactyly, are common. A peculiar electroencephalographic ( EEG ) pattern characterized by rolandic-like spikes and/or continuous spike wave during slow sleep (CSWS) exists in childhood. Etiology The microduplication was identified by microarray -based comparative genomic hybridization (aCGH). Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination (NAHR) or Alu-mediated recombination.

MalaCards based summary : Chromosome Xp11.23-P11.22 Duplication Syndrome, is also known as microduplication xp11.22-p11.23 syndrome, and has symptoms including hoarseness An important gene associated with Chromosome Xp11.23-P11.22 Duplication Syndrome is DUPXP11.23P11.22 (Chromosome Xp11.23-P11.22 Duplication Syndrome). Related phenotypes are intellectual disability and delayed speech and language development

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome Xp11.23-p11.22 region.

More information from OMIM: 300801

Related Diseases for Chromosome Xp11.23-P11.22 Duplication Syndrome

Symptoms & Phenotypes for Chromosome Xp11.23-P11.22 Duplication Syndrome

Human phenotypes related to Chromosome Xp11.23-P11.22 Duplication Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 precocious puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000826
4 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
5 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
6 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
7 hoarse voice 58 31 frequent (33%) Frequent (79-30%) HP:0001609
8 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
9 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
10 eeg with centrotemporal focal spike waves 58 31 frequent (33%) Frequent (79-30%) HP:0012557
11 seizure 31 frequent (33%) HP:0001250
12 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
13 seizures 58 Frequent (79-30%)
14 eeg abnormality 31 HP:0002353
15 intellectual disability, borderline 31 HP:0006889
16 poor speech 31 HP:0002465
17 syndactyly 31 HP:0001159
18 shyness 31 HP:0100962
19 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Feet:
pes planus
pes cavus
syndactyly
fifth toe hypoplasia

Neurologic Behavioral Psychiatric Manifestations:
shyness
stubbornness
autistic-like features

Growth Weight:
excessive weight

Voice:
hoarse voice
nasal voice

Neurologic Central Nervous System:
eeg abnormalities
poor speech articulation
mental retardation, borderline to severe
subclinical absence seizures
diffuse paroxysmal discharges
more
Endocrine Features:
early puberty

Clinical features from OMIM®:

300801 (Updated 05-Apr-2021)

UMLS symptoms related to Chromosome Xp11.23-P11.22 Duplication Syndrome:


hoarseness

Drugs & Therapeutics for Chromosome Xp11.23-P11.22 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xp11.23-P11.22 Duplication Syndrome

Genetic Tests for Chromosome Xp11.23-P11.22 Duplication Syndrome

Genetic tests related to Chromosome Xp11.23-P11.22 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome Xp11.23-P11.22 Duplication Syndrome 29

Anatomical Context for Chromosome Xp11.23-P11.22 Duplication Syndrome

Publications for Chromosome Xp11.23-P11.22 Duplication Syndrome

Articles related to Chromosome Xp11.23-P11.22 Duplication Syndrome:

# Title Authors PMID Year
1
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. 57
19716111 2009

Variations for Chromosome Xp11.23-P11.22 Duplication Syndrome

Expression for Chromosome Xp11.23-P11.22 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome Xp11.23-P11.22 Duplication Syndrome.

Pathways for Chromosome Xp11.23-P11.22 Duplication Syndrome

GO Terms for Chromosome Xp11.23-P11.22 Duplication Syndrome

Sources for Chromosome Xp11.23-P11.22 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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