Free trisomy 9P in elderly woman

The karyotype 47,XX,+9p was observed in a 50-year-old mentally retarded woman with dysmorphic facies, severe cerebral malformations, limb deformities, retarded sexual maturation and deviating dermatoglyphs. Banding analysis showed the extra chromosome to be composed of 9p and the proximal part of 9q comprising a large secondary constriction. The breakage point is estimated as 9q13. Hemozygous large C bands were observed in both chromosomes No. 9 as well as in the extra chromosome. Clinically this case can be regarded as a pure 9p trisomy. The mechanism causing the syndrome is thought to be malsegregation of a deleted chromosome No. 9.