title: De novo trisomy 20p of paternal origin.
abstract: We report on a case of a de novo trisomy 20p in a 5-year-old boy. The patient presented with dysmorphic features, mental retardation, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidism, and preaxial hexadactyly. No growth delay was noticed. Standard karyotype and FISH techniques allowed the characterization of the chromosome rearrangement showing a duplication spanning almost the whole short arm of chromosome 20. Therefore the karyotype was interpreted as 46,XY,der(20)(pter --> q13.3::p11.2 --> pter). Molecular studies identified the duplication of paternal origin. This is one of the rare reports with almost pure trisomy 20p characterized at the molecular level. Its phenotype is compared to other similar cases described in the literature.
authors: Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunisie. chaabouni_myriam@yahoo.fr
authors: Myriam
authors: M
authors: Chaabouni
authors: Catherine
authors: C
authors: Turleau
authors: Lotfi
authors: L
authors: Karboul
authors: Lamia Ben
authors: LB
authors: Jemaa
authors: Faouzi
authors: F
authors: Maazoul
authors: Tania
authors: T
authors: Attié-Bitach
authors: Serge
authors: S
authors: Romana
authors: Habiba
authors: H
authors: Chaabouni
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002890:Chromosomes, Human, Pair 20; D005146:Facial Asymmetry / Q000235:genetics; D005220:Fathers; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D017689:Polydactyly / Q000235:genetics; D014314:Trisomy / Q000235:genetics*