[Language development impairment and trisomy 8 mosaicism].
Constitutional trisomy 8 mosaicism (46,XX/47,XX,+8 or 46,XY/47,XY,+8) is characterized by trisomic distribution of chromosomes in some but not all cells of the body. The full condition presents with physical stigmata, skeletal abnormalities and a mild to moderate cognitive impairment.Here we present a boy aged 3 years 10 months with partial trisomy 8 who was referred because of a language impairment. Because of known anomalies (corpus callous agenesis, deformities of the spine) a chromosomal analysis was initiated.This case highlights the necessity for an interdisciplinary diagnostic approach in children with language impairment and other constitutional disorders.
Ptok
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M
Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover, Hannover, Germany. Ptok.Martin@mh-hannover.de
Morlot
S
S
D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D006801:Humans; D007806:Language Disorders / Q000150:complications* / Q000235:genetics*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*