Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature

• Published in: Gene 2013-04, Vol.519 (1), p.135-141
• Main Authors: Ben-Abdallah-Bouhjar, Inesse, Mougou-Zerelli, Soumya, Hannachi, Hanene, Ben-Khelifa, Hela, Soyah, Najla, Labalme, Audrey, Sanlaville, Damien, Elghezal, Hatem, Saad, Ali
• Format: Article
• Language: English
• Subjects: abnormal development; Abnormalities, Multiple - genetics; Array-CGH; brain; Chromosome Deletion; Chromosomes, Human, Pair 11 - genetics; Chromosomes, Human, Pair 7 - genetics; CIH; Comparative Genomic Hybridization; Epilepsy; FISH; fluorescence in situ hybridization; Genetic Association Studies - methods; growth retardation; hernia; Humans; In Situ Hybridization, Fluorescence; Infant; Intellectual disability; Intellectual Disability - genetics; Karyotyping; Male; Microarray Analysis - methods; neural tube defects; nose; palate; patients; Phenotype; reciprocal translocation; Translocation, Genetic; trisomics; Trisomy - genetics; Trisomy 11q syndrome; urinary tract
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2013.01.017

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. ► We report a partial trisomy 11q syndrome. ► Micro-array showed a partial trisomy 11q of 33,4Mb and a partial monosomy 7p of 140 Kb. ► We precise genes contained in the deleted and duplicated regions. ► ID, Epilepsy and CIH are the spectrum of anomalies in trisomy 11q syndrome. ► Genotype-phenotype correlation provides genetic counseling to the parents.