title: Comparative genomic hybridization-assisted prenatal diagnosis of a de novo inverted duplication of chromosome 10q. A case report.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, 5, Fu-Hsing Street, Kwei-Shan, Tao-Yuan, 333, Taiwan. ckchen@cgmh.org.tw
authors.forename: Chun-Kai
authors.initials: CK
authors.lastname: Chen
authors.forename: Shuenn-Dyh
authors.initials: SD
authors.lastname: Chang
authors.forename: Yann-Jang
authors.initials: YJ
authors.lastname: Chen
authors.forename: Ding-Wei
authors.initials: DW
authors.lastname: Hsueh
authors.forename: Yung-Kuei
authors.initials: YK
authors.lastname: Soong
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA