Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review

L. Zelante, F. Torricelli, S. Calvano, R. Mingarelli, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct facial dysmorphism, including elongated face, narrow palpebral fissures, epicanthus, and broad nasal bridge. Other characteristic anomalies found only in some patients are retinal anomalies, lymphoedema of hands and feet, and proneness to pulmonary infections.

Original languageEnglish
Pages (from-to)93-97
Number of pages5
JournalAnnales de Genetique
Volume34
Issue number2
Publication statusPublished - 1991

Keywords

  • abnormal pigmentation of retinae
  • chromsome 14
  • edema
  • malformation syndrome
  • ring chromosome
  • seizures

ASJC Scopus subject areas

  • Genetics

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