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tetrasomie X (aandoening)
tetrasomie X
karyotype 48,XXXX
tetra X
XXXX-syndroom
Tetrasomy X syndrome
48,XXXX syndrome
Four X syndrome
XXXX syndrome
Tetra X
Tetrasomy X
Quadruple X
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis.
Id10567003
StatusPrimitive
Associated morphologytetrasomie
Finding sitestructuur van X-chromosoom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map9
SNOMED CT to ICD-10 extended map
TargetQ97.1
RuleTRUE
AdviceALWAYS Q97.1
CorrelationSNOMED CT source code to target map code correlation not specified