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Xq27.3q28 duplication syndrome
1 OMIM reference -
1 associated gene
16 connected diseases
20 signs/symptoms
Disease Type of connection
Fragile X syndrome
Fragile X-associated tremor / ataxia syndrome
Angelman syndrome
Estrogen resistance syndrome
Herpetic encephalitis
Richieri Costa-Pereira syndrome
17q11 microdeletion syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Familial isolated dilated cardiomyopathy
Isolated Klippel-Feil syndrome
Muscular dystrophy, Selcen type
Spondylocarpotarsal synostosis
Spondylometaphyseal dysplasia - cone-rod dystrophy
Synonym(s):
- Dup(X)(q27.3q28)
- Trisomy Xq27.3-q28
- Trisomy Xq27.3q28
- Xq27.3-q28 microduplication syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FMR1 Q06787309550
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Deepset eyes / enophthalmos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Long / large / bulbous nose
- Short stature / dwarfism / nanism
- Small foot
- Small hand / acromicria
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Thin / retracted lips
- Total / partial trisomy / duplication
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Decreased body hair / axillar / pubic hairlessness
- Delayed bone age
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hypotonia
- Intrauterine growth retardation
- Truncal obesity

Occasional
- Precocious menopause / secondary amenorrhea