Comparative genomic hybridization-assisted prenatal diagnosis of a de novo inverted duplication of chromosome 10q. A case report.
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.
Chen
Chun-Kai
CK
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, 5, Fu-Hsing Street, Kwei-Shan, Tao-Yuan, 333, Taiwan. ckchen@cgmh.org.tw
Chang
Shuenn-Dyh
SD
Chen
Yann-Jang
YJ
Hsueh
Ding-Wei
DW
Soong
Yung-Kuei
YK
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
D004247:DNA