[Gonosomal trisomy syndrome. Five case reports and review of literature]

C Schwemmle, M Jungheim, M Ptok
Laryngo- Rhino- Otologie 2013, 92 (11): 725-31
Gonosomal trisomies (GT) or so called sex chromosome trisomies (SCTs) are the most common chromosomal abnormalities in humans. The addition of extra X and/or Y chromosomes leads to neurodevelopmental differences, with increased risk for developmental delays, cognitive impairments, executive dysfunction, and behavioural and psychological disorders. Attentional problems, hyperactivity, autistic spectrum disorders and impulsivity are commonly described. Rates of language and communication problems are high in all 3 trisomies. Especially in cases of language impairment ENT specialists may be the main contact to rule out hearing loss. Here, we present 5 patients with SCT. In 2 boys and a young man, SCT was already known (47,XXY; 47,XYY; 47,XYY), in 2 cases we initiated genetic investigation (47,XXX; 47,XXY). Main symptom of the 4 children was a language delay; the young man reported had a history of mild language and motor coordination delay, too. Main complaints of the adult patient were problems with speech-in-noise perception. Furthermore 2 of the patients had mild facial dysmorphic features. The prognosis of the development in patients with SCT is variable, depending on severity of the manifestations and on quality and timing of treatment. Furthermore, in children with motor development/language delay a chromosomal analysis may be initiated at least at the request of the parents to clarify the etiology of developmental abnormalities. If the suspicion of hearing impairment as the cause of problems is not confirmed in a patient, ENT specialists should also consider SCA as a possible cause in the differential diagnosis.

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