“Whoa! It's like Spotify but for academic articles.”

Instant Access to Thousands of Journals for just $40/month

Get 2 Weeks Free

Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus

Chromosomal segregation anomalies often result in trisomy of a single chromosome, which can lead to a disastrous phenotype in the fetus. However, this trisomy is often “rescued” via loss of one of the triploid chromosomes. Depending on which chromosome is eliminated in the rescue, a condition known as uniparental disomy may arise where both copies of a particular chromosome pair originate from the same parent. Here we describe the case of a 32‐year‐old woman who was prenatally diagnosed with trisomy 7 mosaicism via amniocentesis. Forty‐one percent of the colonies analyzed displayed trisomy 7 (two maternal chromosomes and one paternal chromosome); whereas, 59% of the colonies demonstrated a normal, disomic karyotype. Further analysis revealed that the “normal” cell lineage displayed maternal uniparental heterodisomy. Chorionic villus tissue was homogenously trisomic, and cord blood cells were uniformly disomic. This is the first case of trisomy 7/uniparental disomy 7 mosaic fetus reported in the literature. It is important to note that not all such cases will result in lethality or a fetus with major anatomic, developmental, or cognitive abnormalities. In addition, the benefit of pre‐ and post‐screening test counseling and support is discussed in reference to fetuses with chromosomal abnormalities in general and our case in particular. © 2003 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

Loading next page...
 
/lp/wiley/prenatal-diagnosis-of-a-trisomy-7-maternal-uniparental-heterodisomy-7-AkAB0GOM6w

You're reading a free preview. Subscribe to read the entire article.

And millions more from thousands of peer-reviewed journals, for just $40/month

Get 2 Weeks Free

To be the best researcher, you need access to the best research

  • With DeepDyve, you can stop worrying about how much articles cost, or if it's too much hassle to order — it's all at your fingertips. Your research is important and deserves the top content.
  • Read from thousands of the leading scholarly journals from Springer, Elsevier, Nature, IEEE, Wiley-Blackwell and more.
  • All the latest content is available, no embargo periods.

Stop missing out on the latest updates in your field

  • We’ll send you automatic email updates on the keywords and journals you tell us are most important to you.
  • There is a lot of content out there, so we help you sift through it and stay organized.