["Free" 9p trisomy in a male child with severe mental retardation (author's transl)].
A new case of free 9p trisomy is described. The GTG banding technique and the Giemsa-11 method showed that the extra chromosome comprised precisely the 9pter leads to q12 segment. The carrier is an eleven-year-old male child with typical facial features: globulous nose, antimongoloid slant of palpebral fissures, downward turning of mouth angels and winged ears, severe mental retardation particularly regarding language and characteristic dermatoglyphics.
D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014314:Trisomy
Trisomía 9p "libre" en un niño con retraso mental grave.