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

Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
American Journal of Medical Genetics Part A (Impact Factor: 2.05). 09/2005; 137A(3):308-12. DOI: 10.1002/ajmg.a.30877
Source: PubMed

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.

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