Xq27.3q28-duplicatiesyndroom (aandoening)
trisomie Xq27.3-q28
Chromosome Xq27.3q28 duplication syndrome
A recently described syndrome with characteristics of short stature, hypogonadism, developmental delay and facial dysmorphism. Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features that are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause. This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. Transmission is X-linked.
Associated morphologypartiële trisomie
Finding sitestructuur van X-chromosoom
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde totale en partiële trisomieën van autosomen
SNOMED CT to Orphanet simple map261483
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q92.8
CorrelationSNOMED CT source code to target map code correlation not specified