Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28

Hum Genet. 1991 Jun;87(2):151-4. doi: 10.1007/BF00204171.


We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Blotting, Southern
  • Chromosome Inversion
  • Chromosomes, Human, Pair 3*
  • Densitometry
  • Female
  • Genetic Markers
  • Humans
  • Infant, Newborn
  • Phenotype
  • Trisomy*


  • Genetic Markers