Chromosome 7 short arm deletion, 7p21----pter

Hum Genet. 1986 Nov;74(3):323-5. doi: 10.1007/BF00282559.

Abstract

A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21----pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 7 / ultrastructure*
  • Craniosynostoses / genetics*
  • Craniosynostoses / pathology
  • Female
  • Heart Septal Defects, Atrial / genetics*
  • Heart Septal Defects, Atrial / pathology
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology