tetrasomie X (aandoening)
tetrasomie X
karyotype 48,XXXX
tetra X
Four X syndrome
XXXX syndrome
Tetrasomy X
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder 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.
Associated morphologytetrasomie
Finding sitestructuur van X-chromosoom
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map9
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q97.1
CorrelationSNOMED CT source code to target map code correlation not specified