Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding

Sau W. Cheung, James P. Crane, Heidi Beaver

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

It has been suggested that actively expressed genes are primarily located in early replicating bands. This hypothesis is supported by cytogenetic and pregnancy outcome data from four consecutive cases of prenatally detected de novo marker chromosomes. Two fetuses with major anomalies had large early replicating bands, while the marker in a third phenotypically normal fetus was late replicating. In the fourth case, a ring marker chromosome had only a small early replicating region. Pregnancy termination was elected. While no structural malformations were apparent, potential intellectual function in this case remains unresolved. An understanding of the relationship between genomic organization and chromosome banding is critical in counseling for prenatally detected de novo marker chromosomes. Replicational banding is particularly helpful in recognizing genes that may be actively expressed and result in developmental abnormality.

Original languageEnglish
Pages (from-to)717-724
Number of pages8
JournalPrenatal Diagnosis
Volume10
Issue number11
DOIs
StatePublished - Nov 1990

Keywords

  • De novo marker chromosome
  • Genomic organization
  • Replication banding

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