Partial deletion 10p syndrome. Report of two patients

M. G. Obregon, R. Mingarelli, A. Giannotti, A. Di Comite, F. S. Spedicato, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

Two patients with partial deletion of the short arm of chromosome 10 are described. They showed most of the features observed in twenty other known patients, including growth retardation, mental deficiency, abnormally shaped skull, distinct facial dysmorphisms, cardiac and genitourinary malformations, and limbs anomalies. One of our patients also had features of the DiGeorge sequence, which has been found in five other cases with this imbalance.

Original languageEnglish
Pages (from-to)101-104
Number of pages4
JournalAnnales de Genetique
Volume35
Issue number2
Publication statusPublished - 1992

Keywords

  • Chromosome 10
  • DiGeorge anomaly
  • Multiple congenital malformations
  • Partial deletion

ASJC Scopus subject areas

  • Genetics

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