The trisomy 4p syndrome: A case report

G. Keren, R. Chaki, M. Bat Miriam Katznelson, B. Goldman

Research output: Contribution to journalArticlepeer-review

Abstract

Partial trisomy of the short arm of chromosome 4 is considered to be a rare chromosomal disorder. Its clinical and dermatoglyphic features tend to make it a clinically recognizable syndrome. This paper describes a 2 year-old female child with the characteristic findings of frontal bossing, deep-set eyes, broad nasal bridge giving the appearance of hypertelorism, wide nares, midfacial hypoplasia, large dysplastic ears, prognathism and various hand and foot malformations. Chromosomal studies showed her to be trisomic for the distal two-thirds of the short arm of number 4. The etiology of this chromosomal aberration in most instances is unknown, but may occur as a result af an unbalanced translocation in one of the parents as in the case reported here.

Original languageEnglish
Pages (from-to)273-275
Number of pages3
JournalEuropean Journal of Pediatrics
Volume138
Issue number3
DOIs
StatePublished - May 1982

Keywords

  • Chromosomal aberration
  • Congenital malformation syndrome
  • Partial trisomy 4

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