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.
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.
Grange
Dorothy K
DK
Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA. grange_d@kids.wustl.edu
Garcia-Heras
Jaime
J
Kilani
Ramzi A
RA
Lamp
Stephen
S
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005220:Fathers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D014314:Trisomy