[XXYY chromosomal constitution recognised during the 1st year of life].
The authors report two cases of infants with an XXYY chromosomal constitution. The anomaly was suspected in the presence of a particular facies associated with abnormalities of development of the external genitalia. The diagnosis was confirmed rapidly and easily by immunofluorescent study of buccal scrapings and polynu clear cells. Early diagnosis is a value with regard to family counselling.
D005145:Face; D006801:Humans; D007223:Infant; D007713:Klinefelter Syndrome / Q000175:diagnosis*; D008297:Male; D012730:Sex Chromosomes
Constitution chromosomique XXYY reconnue dans la première année de la vie