Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

Travis M. Sanger, Ann Haskins Olney, Dianna Zaleski, Diane Pickering, Marilu Nelson, Warren G. Sanger, Bhavana J. Dave

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


A newborn male was referred for genetic evaluation because of multiple congenital abnormalities. Physical findings included a round face, telecanthus, hypertelorism, a short upturned nose with anteverted nares, small ears, micrognathia, short toes, and congenital heart disease. Chromosome analysis detected a possible deletion of 9qter because of satellite material on 9qter. Delineation by FISH and microarray CGH studies showed 46,XY,der(9)t(9;22)(q34. 3;p11.2). The mother and maternal grandfather had a balanced t(9;22) (q34.3;p11.2) rearrangement. Also, the maternal great-aunt of the propositus was found to have a duplication of 9q34.3 → qter. FISH was required to delineate her karyotype, which was 46,XX.ish der(22)t(9;22)(q34.3;p11.2). This maternal great-aunt and one of her daughters (cytogenetics not done) have a relatively normal phenotype, only reporting mild learning disabilities in school. Since the 22p material involved in this rearrangement is clinically irrelevant, this report describes an individual with a pure deletion of 9q34.3 → qter and another with a pure duplication of 9q34.3 → qter.

Original languageEnglish (US)
Pages (from-to)51-55
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume138 A
Issue number1
StatePublished - Sep 15 2005


  • Chromosome 9
  • Deletion
  • Duplication
  • t(9;22)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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