Deletion 5q35.3

Am J Med Genet. 1994 Jun 1;51(2):150-2. doi: 10.1002/ajmg.1320510214.


We report on a 15-month-old boy with a de novo deletion of the terminal band of 5q, macrocephaly, mild retrognathia, anteverted nares with low flat nasal bridge, telecanthus, minor earlobe anomalies, bell-shaped chest, diastasis recti, short fingers, and mild developmental delay.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Amniocentesis
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5*
  • Humans
  • Infant
  • Karyotyping
  • Male