Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability

Genet Couns. 1995;6(1):37-41.

Abstract

In the present communication we report on a family with three children affected by Seckel-syndrome with mental deficiency, microcephaly, micrognathia and severe growth deficiency. All patients had chromosome instability, which was employed for the prenatal diagnosis of a fourth fetus suspected as a potential Seckel syndrome patient, and one of them had additional hematological disorders. As this condition has been previously characterized as a Seckel syndrome subgroup we report our data concerning this distinct entity.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations*
  • Chromosome Fragility
  • Dwarfism / genetics
  • Fatal Outcome
  • Female
  • Folic Acid / genetics
  • Hematologic Diseases / complications
  • Humans
  • Infant, Newborn
  • Male
  • Sister Chromatid Exchange
  • Syndrome

Substances

  • Folic Acid