Efficacy of array comparative genomic hybridization in a fetus with an inherited apparently balanced translocation: A case report.
When one parent is discovered to have the same apparently balanced genetic rearrangement as that identified at prenatal diagnosis, many couples are advised to seek a more precise prenatal diagnosis for reassurance. A 25-year-old translocation carrier, who carried a fetus with partial trisomy 3q and partial monosomy 9p with omphalocele in a previous pregnancy, showed the same apparently balanced translocation at chorionic villus sampling. A truly balanced translocation without cryptic imbalances for the fetus was detected using array comparative genomic hybridization. For cryptic unbalanced defects, in which an apparently balanced translocation has been transmitted from a normal parent to a child with a phenotypic abnormality, the use of array comparative genomic hybridization to assess the presence of cryptic aberrations in the fetus combines the speed of DNA analysis with a comprehensive scan for submicroscopic genomic abnormalities.
Park
Ji Kwon
JK
Department of Obstetrics and Gynecology, Gyeongsang National University, JinJu, Korea.
Lee
Jae Ik
JI
Jo
Hyun Cheol
HC
Shin
Jeong Kyu
JK
Lee
Soon Ae
SA
Lee
Jong Hak
JH
Paik
Won Young
WY
D000328:Adult; D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D014178:Translocation, Genetic