Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies

J Hum Genet. 2003;48(6):283-287. doi: 10.1007/s10038-003-0023-5. Epub 2003 Apr 24.


We describe the case of a 22-month-old boy with developmental and psychomotor retardation as well as craniofacial dysmorphism, including a cleft lip. Analysis of G-banded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 3, del(3)(p13p11). Fine mapping of the deletion was performed using fluorescence in situ hybridisation analysis with region-specific BAC clones. Eight BACs were absent from one chromosome 3 from the patient. Molecular analyses of eleven polymorphic DNA markers helped to narrow down the breakpoints and demonstrated that the derivative chromosome 3 is of paternal origin. The deleted segment encompasses about 15 Mb between marker D3S3551 and the centromere. Only a small number of known genes, including PROK2, GPR27, RYBP, PPP4R2, ROBO1, and GBE1, which map in the 3p13-p11 region are included in the deletion.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3 / genetics*
  • Cleft Lip / pathology
  • Cleft Lip / surgery
  • Developmental Disabilities / genetics*
  • Haplotypes
  • Heterozygote
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Pedigree