Trisomy 1q43 syndrome: A consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies

Eva Morava-Kozicz, K. E. Jackson, F. Tsien, M. R. Marble

Research output: Contribution to journalArticle

5 Scopus citations


Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age. We report on a girl with the same pattern of malformations, who has pure trisomy 1q43: duplication of the region (1) (q43) and the translocation of the terminal region of the other chromosome 1 to the derivative 1, narrowing down the critical region for the characteristic traits of severe developmental delay, macrocephaly and congenital cardiac malformations.

Original languageEnglish (US)
Pages (from-to)449-453
Number of pages5
JournalGenetic Counseling
Issue number4
StatePublished - Dec 1 2004
Externally publishedYes



  • Congenital heart defect
  • Diabetes mellitus
  • Macrocephaly
  • Trisomy 1q43

ASJC Scopus subject areas

  • Genetics(clinical)

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