Interstitial deletion of 10q: Clinical features and literature review

S. Lobo, J. Cervenka, A. London, M. E.M. Pierpont

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

We report on a patient with interstitial deletion of 10q and compare her to 8 previously described patients, 2 of whom have chromosomal breakpoints similar to our patient. Minor anomalies including broad forehead, hypertelorism, strabismus, prominent philtrum, and 'dysplastic' pinnae are present in our patient. Psychomotor retardation and hypotonia are universal findings in 10q interstitial deletion. Growth retardation, not present in our patient, is seen in some. These clinical findings are sufficiently distinct to suggest early chromosome studies.

Original languageEnglish (US)
Pages (from-to)701-703
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume43
Issue number4
DOIs
StatePublished - Jun 24 1992

Keywords

  • 10q chromosome abnormality
  • 10q interstitial deletion
  • hypotonia
  • psychomotor retardation

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