Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Marina S. Oren, Jenny E. Camacho, Hongyan Xie, Jean Lowe, Tom Cushing, Carol Clericuzio, Jessie R. Maxwell

Research output: Contribution to journalArticlepeer-review

Abstract

Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detailed genetic studies may be required.

Original languageEnglish (US)
Pages (from-to)898-902
Number of pages5
JournalClinical Case Reports
Volume7
Issue number5
DOIs
StatePublished - May 2019
Externally publishedYes

Keywords

  • congenital heart disease
  • double outlet right ventricle
  • myelomeningocele
  • neural tube defect
  • recombinant chromosome 8

ASJC Scopus subject areas

  • Medicine(all)

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