Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

Prenat Diagn. 2000 Feb;20(2):144-8; discussion 149-51. doi: 10.1002/(sici)1097-0223(200002)20:2<144::aid-pd770>;2-9.


We describe two families in which an inherited interstitial deletion is present without apparent associated phenotypic abnormalities. The first deletion was discovered in a 19-year-old male with a previously diagnosed peroxisomal disorder. High-resolution chromosome analysis was interpreted as 46,XY,del(5)(p14.1p14.3). The patient's phenotypically normal mother had the same interstitial deletion. Chromosome 5p14 deletion has been reported in a three-generation family without phenotypic anomalies. We hypothesize that the affected son's phenotype may be coincidental or represent unmasking of an autosomal recessive peroxisomal disorder in the deleted region. The second interstitial deletion was detected by amniocentesis for advanced maternal age. High-resolution chromosome analysis was interpreted as 46,XX,del(16)(q13q22). The same deletion was found in the healthy mother and a normal brother. The pregnancy was carried to term and resulted in the birth of a normal girl. We report these cases as further evidence that rare, unbalanced deletion of specific chromosomal regions may result in no phenotypic effect. Consequences may result from expression of an autosomal recessive disorder on the homologous chromosome. Identification of such deletions is especially important for prenatal diagnosis and genetic counselling.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Chromosome Painting
  • Chromosomes, Human, Pair 16*
  • Chromosomes, Human, Pair 5*
  • Female
  • Gene Deletion*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Maternal Age
  • Phenotype*
  • Pregnancy
  • Pregnancy, High-Risk