A case of 48,XXYY syndrome detected prenatally by QF-PCR.
We report on the prenatal diagnosis and genetic analysis of a 48,XXYY fetus. A 28-year-old woman was referred for amniocentesis at 18 weeks' gestation because of advanced paternal age. Quantitative-fluorescence polymerase chain reaction (QF-PCR) with small tandem repeat (STR) markers rapidly detected the sex chromosome polysomy from amniotic fluid cells. This abnormality appeared to arise from successive non-disjunction during paternal meiosis I and meiosis II. Cytogenetic analysis revealed a karyotype of 48,XXYY. This case adds to the evidence that an age-related increase in sex chromosomal aneuploidies occurs in sperm. This case also shows that QF-PCR assays can provide rapid prenatal diagnosis of numerical sex chromosome aneuploidy.
Zhang
Qiu-Shi
QS
Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, China.
Li
Dong-Zhi
DZ
D000025:Abortion, Eugenic; D000328:Adult; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D005453:Fluorescence; D020440:Gene Duplication; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D012729:Sex Chromosome Aberrations; D013577:Syndrome