Interstitial deletion of chromosome 1 (q23-q25). Report of a case

M. C. Silengo, G. F. Davi, R. Bianco, M. Biagioli, A. Guala, P. Franceschini, G. Novelli

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a 3-month-old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23-25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease. The four previously reported patients with the same deletion share with ours the distinctive pattern of anomalies of the face and limbs; therefore, it seems now possible to delineate a proximal 1q deletion syndrome.

Original languageEnglish
Pages (from-to)549-552
Number of pages4
JournalClinical Genetics
Volume25
Issue number6
Publication statusPublished - 1984

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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