Trisomy 20q13 → 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): Clinical report and review of the trisomy 20q phenotype

Dorothy K. Grange, Jaime Garcia-Heras, Ramzi A. Kilani, Stephen Lamp

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations

Abstract

We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.

Original languageEnglish
Pages (from-to)308-312
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume137 A
Issue number3
DOIs
StatePublished - Sep 1 2005

Keywords

  • Chromosome 20 pericentric inversion
  • Rec(20)dup(20q)
  • Trisomy 20q

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