Trisomy Xq28

General Information (adopted from Orphanet):

Synonyms, Signs: GDI1 DUPLICATION SYNDROME
Distal duplication Xq
Telomeric duplication Xq
Number of Symptoms 15
OrphanetNr: 1762
OMIM Id: 300815
ICD-10: Q99.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial duplication of the long arm of chromosome X
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
2
 (HPO:0010804) Tented upper lip vermilion Very frequent [Orphanet] 47 / 7739
3
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
4
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
5
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
6
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
7
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
8
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
9
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
10
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
11
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
12
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
13
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
14
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vandewalle et al. (2009) reported 4 families with X-linked mental retardation. The first family was of Belgian origin and had 4 affected males in 2 generations. All had normal growth, moderate mental retardation, and variable mild dysmorphic features, ...
Molecular genetics OMIM In 4 families with X-linked mental retardation, Vandewalle et al. (2009) identified copy number gain of an identical 0.3-Mb region at chromosome Xq28 that included 18 annotated genes. Of these, RPL10 (312173), ATP6AP1 (300197), and GDI1 (300104) are ...