title: Array-CGH study of partial trisomy 9p without mental retardation.
abstract: Partial trisomy 9p is one of the most common detected autosomal structural anomalies, so the phenotype-genotype correlation of this rearrangement has been well described. Despite variation in size of the 9p duplications, trisomy 9p syndrome is characterized by typical dysmorphic features and a variable but constant psychomotor and mental retardation. Previously reported phenotype genotype correlation studies proposed that the critical region for phenotype is located in 9p22. We report here on a new patient with partial trisomy 9p13.3→9pter in an 8-year-old boy with typical trisomy 9p dysmorphic features but a normal mental development. Cytogenetics investigations showed that our patient karyotype was 47,XY,+ der(22)t(9;22)(p13.q11) inherited by a 3:1 disjunction of a maternal reciprocal translocation t(9;22)(p13.q11). FISH and array CGH analysis were used to better characterize duplicated chromosomal regions and showed a large duplication of chromosome 9p13.3→9pter associated to microduplication in 22q11.1. The size of the duplications in chromosomes 9p and 22q were estimated about 33.9 and 2.67 Mb, respectively. The comparison between this case and those reported in the literature allows us to support that all syndromes show variability and that not all partial trisomies 9p are associated with intellectual disability.
authors.affiliation: Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia. inessebenabdallah@yahoo.fr
authors.forename: Inesse Ben Abdallah
authors.initials: IB
authors.lastname: Bouhjar
authors.forename: Hanane
authors.initials: H
authors.lastname: Hannachi
authors.forename: Soumaya Mougou
authors.initials: SM
authors.lastname: Zerelli
authors.forename: Audrey
authors.initials: A
authors.lastname: Labalme
authors.forename: Abir
authors.initials: A
authors.lastname: Gmidène
authors.forename: Najla
authors.initials: N
authors.lastname: Soyah
authors.forename: Sonia
authors.initials: S
authors.lastname: Missaoui
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: Hatem
authors.initials: H
authors.lastname: Elghezal
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
mesh_terms: D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*