MCID: CHR507
MIFTS: 16

Chromosome Xq27.3-Q28 Duplication Syndrome

Categories: Neuronal 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 73

Characteristics:

OMIM:

57
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:

32
chromosome xq27.3-q28 duplication syndrome:
Inheritance x-linked recessive inheritance


Classifications:



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)

MalaCards based summary : Chromosome Xq27.3-Q28 Duplication 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 global developmental delay and short stature

Related Diseases for Chromosome Xq27.3-Q28 Duplication Syndrome

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

Symptoms via clinical synopsis from OMIM:

57
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

Skeletal Hands:
small hands

Head And Neck Mouth:
thin lips

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

Head And Neck Nose:
bulbous nasal tip

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

Skeletal Feet:
small feet

Laboratory Abnormalities:
increased gonadotropins
low testosterone


Clinical features from OMIM:

300869

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

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 short stature 32 very rare (1%) HP:0004322
3 intellectual disability, mild 32 HP:0001256
4 short foot 32 very rare (1%) HP:0001773
5 cryptorchidism 32 very rare (1%) HP:0000028
6 increased circulating gonadotropin level 32 very rare (1%) HP:0000837
7 intrauterine growth retardation 32 very rare (1%) HP:0001511
8 specific learning disability 32 very rare (1%) HP:0001328
9 hypogonadism 32 HP:0000135
10 deeply set eye 32 very rare (1%) HP:0000490
11 decreased testicular size 32 very rare (1%) HP:0008734
12 decreased serum testosterone level 32 very rare (1%) HP:0040171
13 small hand 32 very rare (1%) HP:0200055
14 bulbous nose 32 very rare (1%) HP:0000414
15 gynecomastia 32 very rare (1%) HP:0000771
16 thin vermilion border 32 very rare (1%) HP:0000233
17 sparse body hair 32 very rare (1%) HP:0002231
18 small for gestational age 32 HP:0001518
19 abdominal obesity 32 HP:0012743

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:

41
Testes, Eye

Publications for Chromosome Xq27.3-Q28 Duplication Syndrome

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....