Xq27.3q28 duplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Xq27.3-q28 microduplication syndrome
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Dup(X)(q27.3q28)
Number of Symptoms 43
OrphanetNr: 261483
OMIM Id: 300869
ICD-10: Q99.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the long arm of chromosome X
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000869) Secondary amenorrhea Occasional [Orphanet] 42 / 7739
2
 (HPO:0000135) Hypogonadism 89 / 7739
3
 (HPO:0008734) Decreased testicular size Very frequent [Orphanet] 105 / 7739
4
 (HPO:0008209) Premature ovarian failure occasional [HPO:skoehler] 28 / 7739
5
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
6
 (HPO:0000028) Cryptorchidism 347 / 7739
7
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
8
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
9
 (HPO:0000414) Bulbous nose 63 / 7739
10
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
11
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
12
 (HPO:0001328) Specific learning disability 114 / 7739
13
 (HPO:0001263) Global developmental delay 853 / 7739
14
 (HPO:0001256) Intellectual disability, mild 141 / 7739
15
 (HPO:0100543) Cognitive impairment 230 / 7739
16
 (HPO:0000771) Gynecomastia Frequent [Orphanet] 53 / 7739
17
 (HPO:0008230) Decreased testosterone in males 4 / 7739
18
 (HPO:0000837) Increased circulating gonadotropin level 12 / 7739
19
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
20
 (HPO:0001773) Short foot Very frequent [Orphanet] 86 / 7739
21
 (HPO:0005922) Abnormal hand morphology 6 / 7739
22
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
23
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
24
 (HPO:0001438) Abnormality of the abdomen 28 / 7739
25
 (HPO:0001518) Small for gestational age 107 / 7739
26
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
27
 (HPO:0001956) Truncal obesity Frequent [Orphanet] 39 / 7739
28
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
29
 (HPO:0004322) Short stature Very frequent [Orphanet] occasional [HPO:skoehler] 1232 / 7739
30
 (HPO:0002231) Sparse body hair 9 / 7739
31
 (HPO:0002225) Sparse pubic hair Frequent [Orphanet] 76 / 7739
32
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
33
 (HPO:0001620) High pitched voice 32 / 7739
34
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
35
 (OMIM) Premature ovarian failure in female carriers 1 / 7739
36
 (MedDRA:10043315) Testicular failure 3 / 7739
37
 (HPO:0012743) Abdominal obesity 6 / 7739
38
 (OMIM) Increased gonadotropins 1 / 7739
39
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
40
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
41
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
42
 (OMIM) Low testosterone 2 / 7739
43
 (OMIM) Normal speech 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Rio et al. (2010) reported a French family in which 3 adult males had syndromic mild mental retardation. All had low birth weight, reflecting intrauterine growth retardation, and delayed psychomotor development. One had neonatal hypotonia and failure to ...