DUP
MCID: CHR507
MIFTS: 21

Chromosome Xq27.3-Q28 Duplication Syndrome (DUP)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome Xq27.3-Q28 Duplication Syndrome

MalaCards integrated aliases for Chromosome Xq27.3-Q28 Duplication Syndrome:

Name: Chromosome Xq27.3-Q28 Duplication Syndrome 57 29 13 70
Xq27.3-Q28 Microduplication Syndrome 58
Xq27.3q28 Duplication Syndrome 58
Trisomy Xq27.3-Q28 58
Trisomy Xq27.3q28 58
Dup 58

Characteristics:

Orphanet epidemiological data:

58
xq27.3q28 duplication syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
one french family has been reported (as of march 2012)
female carriers may have short stature and premature ovarian failure


HPO:

31
chromosome xq27.3-q28 duplication syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome Xq27.3-Q28 Duplication Syndrome

OMIM® : 57 Chromosome Xq27.3-q28 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Female carriers may have short stature and premature ovarian failure (summary by Rio et al., 2010). (300869) (Updated 20-May-2021)

MalaCards based summary : Chromosome Xq27.3-Q28 Duplication Syndrome, is also known as xq27.3-q28 microduplication syndrome. An important gene associated with Chromosome Xq27.3-Q28 Duplication Syndrome is DUPXQ27.3Q28 (Chromosome Xq27.3-Q28 Duplication Syndrome). Affiliated tissues include testes and eye, and related phenotypes are failure to thrive and global developmental delay

Related Diseases for Chromosome Xq27.3-Q28 Duplication Syndrome

Symptoms & Phenotypes for Chromosome Xq27.3-Q28 Duplication Syndrome

Human phenotypes related to Chromosome Xq27.3-Q28 Duplication Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 short stature 58 31 very rare (1%) Very frequent (99-80%) HP:0004322
4 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
5 cryptorchidism 58 31 very rare (1%) Very frequent (99-80%) HP:0000028
6 deeply set eye 58 31 very rare (1%) Very frequent (99-80%) HP:0000490
7 bulbous nose 58 31 very rare (1%) Very frequent (99-80%) HP:0000414
8 high pitched voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001620
9 small hand 58 31 very rare (1%) Very frequent (99-80%) HP:0200055
10 thin vermilion border 58 31 very rare (1%) Very frequent (99-80%) HP:0000233
11 decreased testicular size 58 31 very rare (1%) Very frequent (99-80%) HP:0008734
12 short foot 58 31 very rare (1%) Very frequent (99-80%) HP:0001773
13 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
14 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
15 intrauterine growth retardation 58 31 very rare (1%) Frequent (79-30%) HP:0001511
16 gynecomastia 58 31 very rare (1%) Frequent (79-30%) HP:0000771
17 sparse body hair 58 31 very rare (1%) Frequent (79-30%) HP:0002231
18 truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001956
19 hypotonia 31 frequent (33%) HP:0001252
20 premature ovarian insufficiency 31 occasional (7.5%) HP:0008209
21 increased circulating gonadotropin level 31 very rare (1%) HP:0000837
22 specific learning disability 31 very rare (1%) HP:0001328
23 decreased serum testosterone level 31 very rare (1%) HP:0040171
24 muscular hypotonia 58 Frequent (79-30%)
25 precocious menopause 58 Occasional (29-5%)
26 small for gestational age 31 HP:0001518
27 abdominal obesity 31 HP:0012743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Chest Breasts:
gynecomastia

Growth Weight:
abdominal obesity

Neurologic Central Nervous System:
mental retardation, mild
delayed psychomotor development
learning difficulties
normal speech

Voice:
high-pitched voice

Growth Other:
low birth weight
intrauterine growth retardation (iugr)

Skeletal Feet:
small feet

Endocrine Features:
testicular failure
hypogonadism, primary
premature ovarian failure in female carriers

Genitourinary External Genitalia Male:
cryptorchidism
small testes

Skin Nails Hair Hair:
sparse body hair

Abdomen External Features:
abdominal obesity

Head And Neck Eyes:
deep-set eyes

Skeletal Hands:
small hands

Head And Neck Mouth:
thin lips

Head And Neck Nose:
bulbous nasal tip

Laboratory Abnormalities:
increased gonadotropins
low testosterone

Clinical features from OMIM®:

300869 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome Xq27.3-Q28 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xq27.3-Q28 Duplication Syndrome

Genetic Tests for Chromosome Xq27.3-Q28 Duplication Syndrome

Genetic tests related to Chromosome Xq27.3-Q28 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome Xq27.3-Q28 Duplication Syndrome 29

Anatomical Context for Chromosome Xq27.3-Q28 Duplication Syndrome

MalaCards organs/tissues related to Chromosome Xq27.3-Q28 Duplication Syndrome:

40
Testes, Eye

Publications for Chromosome Xq27.3-Q28 Duplication Syndrome

Articles related to Chromosome Xq27.3-Q28 Duplication Syndrome:

# Title Authors PMID Year
1
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. 57
19844254 2010

Variations for Chromosome Xq27.3-Q28 Duplication Syndrome

Expression for Chromosome Xq27.3-Q28 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome Xq27.3-Q28 Duplication Syndrome.

Pathways for Chromosome Xq27.3-Q28 Duplication Syndrome

GO Terms for Chromosome Xq27.3-Q28 Duplication Syndrome

Sources for Chromosome Xq27.3-Q28 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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