Direct duplication of 8p21.3→p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features

Yao Shan Fan, Victoria M. Siu, Jack H. Jung, S. A. Farrell, Gilbert B. Côté

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

We report six cases in two families and a sporadic case with a direct duplication of region 8p21.3→23.1. In one family, the duplication started in the mother and was transmitted to one son and one daughter. In the second family, the father was mosaic for the anomaly that was transmitted to his two daughters. The cytogenetic anomaly was initially described as an 8p+ with banding analysis and then delineated with fluorescence in situ hybridization (FISH) using whole-chromosome 8 painting, 8p specific painting, and 8p or 8p/8q subtelomeric probes. Deletion was not detected in the subtelomeric region of the abnormal chromosome 8 examined in one family and in the sporadic case. The phenotypic picture varies from normal to moderate mental retardation in the affected individuals. No consistent minor anomalies or congenital defects were observed among these cases. After comparing the chromosome region involved in our cases with those in others having direct or inverted duplications of 8p, it is thought that the segment 8p21.1→21.3 might be the critical region for an 8p duplication syndrome. The parental origin of the duplication does not seem to impact its clinical significance.

Original languageEnglish (US)
Pages (from-to)231-234
Number of pages4
JournalAmerican journal of medical genetics
Volume103
Issue number3
DOIs
StatePublished - Oct 15 2001
Externally publishedYes

Keywords

  • Chromosome 8
  • Chromosome abnormality
  • Developmental delay
  • Direct duplication of 8p
  • FISH
  • Mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)

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