title: Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature.
abstract: Partial duplication of 11q is related to several malformations like growth retardation, intellectual disability, hypoplasia of corpus callosum, short nose, palate defects, cardiac, urinary tract abnormalities and neural tube defects. We have studied the clinical and molecular characteristics of a patient with severe intellectual disabilities, dysmorphic features, congenital inguinal hernia and congenital cerebral malformation which is referred to as cytogenetic exploration. We have used FISH and array CGH analysis for a better understanding of the double chromosomic aberration involving a 7p microdeletion along with a partial duplication of 11q due to adjacent segregation of a paternal reciprocal translocation t(7;11)(p22;q21) revealed after banding analysis. The patient's karyotype formula was: 46,XY,der(7)t(7;11)(p22;q21)pat. FISH study confirmed these rearrangement and array CGH technique showed precisely the loss of at least 140 Kb on chromosome7p22.3pter and 33.4Mb on chromosome11q22.1q25. Dysmorphic features, severe intellectual disability and brain malformations could result from the 11q22.1q25 trisomy. Our study provides an additional case for better understanding and delineating the partial duplication 11q.
authors: Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, and Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Sousse, Tunisia. inessebenabdallah@yahoo.fr
authors: Inesse
authors: I
authors: Ben-Abdallah-Bouhjar
authors: Soumya
authors: S
authors: Mougou-Zerelli
authors: Hanene
authors: H
authors: Hannachi
authors: Hela
authors: H
authors: Ben-Khelifa
authors: Najla
authors: N
authors: Soyah
authors: Audrey
authors: A
authors: Labalme
authors: Damien
authors: D
authors: Sanlaville
authors: Hatem
authors: H
authors: Elghezal
authors: Ali
authors: A
authors: Saad
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*