Duplication 6q22→qter: Definition of the phenotype

Beth A. Conrad, Rodney R. Higgins, Mary Ella M. Pierpont

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

We report on a girl with duplication of 6q22.32 → qter and microcephaly, frontal bossing, facial anomalies, and webbed neck. She has congenital heart disease, renal hypoplasia, and hearing loss along with severe developmental delay. Published reports of seven other patients are reviewed and compared. The most frequent anomalies include microcephaly, abnormal face, webbed neck, congenital heart disease, limb contractures, and developmental delay.

Original languageEnglish (US)
Pages (from-to)123-126
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume78
Issue number2
DOIs
StatePublished - Jun 30 1998

Keywords

  • 6q trisomy
  • Chromosome 6 duplication
  • Ebstein's malformation of tricuspid valve
  • Renal hypoplasia

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