Prenatal diagnosis and genetic analysis of X chromosome polysomy 49, XXXXY.


Journal Article

We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a 49,XXXXY fetus. A 31-year-old, primigravida woman was referred for genetic counselling at 17 weeks' gestation with the sonographic findings of intrauterine growth retardation, generalized oedema, a large septated cystic hygroma colli measuring 5x4 cm, and abnormal posturing of the lower extremities. Quantitative fluorescent polymerase chain reaction (QF-PCR) with small tandem repeat (STR) markers specific for chromosome X and a pentanucleotide marker X22 for the Xq/Yq pseudoautosomal region PAR2 rapidly detected the X-chromosome polysomy from amniotic fluid cells. This abnormality appeared to arise from successive non-disjunction during maternal meiosis I and meiosis II. Cytogenetic analysis revealed a karyotype of 49,XXXXY. Our case shows that a 49,XXXXY fetus in the second trimester may demonstrate hydrops fetalis and a large septated cystic hygroma colli by prenatal ultrasound. Our case also shows that QF-PCR assays with sex chromosome specific STR markers provide rapid prenatal diagnosis of numerical sex chromosome aneuploidy as well as its genetic cause in fetal cystic hygroma.

Full Text

Cited Authors

  • Chen, CP; Chern, SR; Chang, CL; Lee, CC; Chen, WL; Chen, LF; Wang, W

Published Date

  • September 2000

Published In

Volume / Issue

  • 20 / 9

Start / End Page

  • 754 - 757

PubMed ID

  • 11015707

Pubmed Central ID

  • 11015707

Electronic International Standard Serial Number (EISSN)

  • 1097-0223

International Standard Serial Number (ISSN)

  • 0197-3851

Digital Object Identifier (DOI)

  • 10.1002/1097-0223(200009)20:9<754::aid-pd896>;2-n


  • eng