Distal 19q duplication

Jonathan Zonana, Michael G. Brown, R. Ellen Magenis

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Two brothers with a distal 19q duplication due to a maternal balanced reciprocal translocation were observed. Clinical features included intrauterine and postnatal growth retardation, microcephaly, and mental retardation with seizures. Dysmorphic facies consisted of coarse hair with a high frontal hairline, short philtrum and nose, flat nasal root, and a broad mouth with downturned commissures. Both routine G-banded and high-resolution prometaphase chromosome studies were employed in evaluation of the family. The dysmorphic features and karyotypes of the affected brothers are compared with those of the two previously reported families with 19q duplication, and a common distal-19q phenotypes is suggested.

Original languageEnglish (US)
Pages (from-to)267-270
Number of pages4
JournalHuman genetics
Volume60
Issue number3
DOIs
StatePublished - May 1 1982

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Zonana, J., Brown, M. G., & Magenis, R. E. (1982). Distal 19q duplication. Human genetics, 60(3), 267-270. https://doi.org/10.1007/BF00303015