De novo trisomy 20p of paternal origin.
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.
Chaabouni
Myriam
M
Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunisie. chaabouni_myriam@yahoo.fr
Turleau
Catherine
C
Karboul
Lotfi
L
Jemaa
Lamia Ben
LB
Maazoul
Faouzi
F
Attié-Bitach
Tania
T
Romana
Serge
S
Chaabouni
Habiba
H
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*