Constitutional del(5)(q23.3q31.1)

Ann Genet. 1987;30(2):91-3.


A 4-month-old male infant with muscular hypotonia, growth and psychomotor retardation, large low-set ears, hypoplastic genitalia, right hip luxation and bilateral equinovarus, was found to have a constitutional 46,XY,del(5)(q23.3q31.1) karyotype. From the comparison with 12 similar cases, a rather characteristic clinical phenotype emerges.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5*
  • Humans
  • Infant
  • Karyotyping
  • Lymphocytes / cytology
  • Male