Comparative genomic hybridization-assisted prenatal diagnosis of a de Novo inverted duplication of chromosome 10q: A case report

Chun Kai Chen, Shuenn Dyh Chang*, Yann Jang Chen, Ding Wei Hsueh, Yung Kuei Soong

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

6 Scopus citations

Abstract

BACKGROUND: Comparative genomic hybridization (CGH) can detect chromosomal imbalance using genomic DNA extracted from tissue without culture and or metaphase spread preparation. It remains a powerful adjunct to conventional karyotyping to help solve clinical cytogenetic cases of intricate unbalanced aberrations. CASE: A 30-year-old, pregnant woman underwent amniocentesis at 16 weeks of gestational age. She had received radioiodine treatment for thyroid disease 4 years earlier and had delivered a healthy infant after treatment. Conventional chromosomal analysis from cultured amniotic fluid cells revealed additional material added to the end of the long arm of 1 chromosome 10. With the aid of CGH, a cytogenetic diagnosis of 46,XY,inv dup(10)(q26q22) was made. CONCLUSION: Though little evidence exists that genetic change on meiosis of oocytes could result from radioiodine treatment, attention should still be paid to pregnant women who have received it. In the case of doubtful results on conventional cytogenetic studies, comparative genomic hybridization could play a role.

Original languageEnglish
Pages (from-to)391-394
Number of pages4
JournalJournal of Reproductive Medicine for the Obstetrician and Gynecologist
Volume48
Issue number5
StatePublished - 01 05 2003
Externally publishedYes

Keywords

  • Chromosome abnormalities
  • Comparative genomic hybridization
  • Genomic hybridization
  • Prenatal diagnosis

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