Methods paper Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature Inesse Ben-Abdallah-Bouhjar a, b, ⁎, Soumya Mougou-Zerelli a, b , Hanene Hannachi a, b , Hela Ben-Khelifa a, b , Najla Soyah c , Audrey Labalme d , Damien Sanlaville d , Hatem Elghezal a, b , Ali Saad a, b a Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia b Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Tunisia c Paediatric Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia d Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Lyon, France abstract article info Article history: Accepted 10 January 2013 Available online 9 February 2013 Keywords: Array-CGH CIH Epilepsy FISH Intellectual disability Trisomy 11q syndrome 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 33.4 Mb on chromosome11q22.1q25. Dysmorphic features, severe intellectual disability and brain malformations could result from the 11q22.1q25 trisomy. Our study provides an addi- tional case for better understanding and delineating the partial duplication 11q. © 2013 Elsevier B.V. All rights reserved. 1. Introduction Partial duplication of the chromosome 11q was recognized as a known clinical entity and referred to as the duplication 11q21q23 syndrome (De Grouchy and Turleau, 1977; Francke et al., 1977). The majority of patients with partial trisomy 11q reported in the litera- ture are due to the result of meiotic mal segregation of a parental translocation involving other chromosomes and are associated with partial monosomy of other chromosomes (Greig et al., 1985; Pihko et al., 1981). The most common translocation is the partial 11q and 22q trisomy syndrome. This is the result of the unbalanced product of translocation between 11q23 and 22q11 and it carriers a 3:1 tertia- ry trisomic malsegregation (Fraccaro et al., 1980; Iselius et al., 1983). Trisomy 11q has also been reported as an interstitial duplication (Delobel et al., 1998). The presence of clinical practice in the diagnosis of human chromosome abnormalities of patients with intellectual disability and congenital malformations benefited enormously from the advent of array CGH technology. This allows high resolution pan genomic analysis to detect interstitial and subtelomeric submicro- scopic imbalances and to characterize their size at the molecular level and to define the breakpoints of translocation (Sanlaville et al., 2005). Here, we report that this technique was effective to refine the molecular cytogenetic characterization of two genomic imbalances in a 3-year-old boy: a 7p22.3 microdeletion and a partial duplication of the long arm of chromosome 11q22.1-q25. Partial duplication 11q is currently known to share several common clinical features, such as, severe intellectual disability, growth retardation, microcephaly, facial dysmorphism, epilepsy, cardiac, renal and cerebral malformations, and congenital inguinal hernia (Burnside et al., 2009; Delobel et al., 1998; Klaassens et al., 2006; Smeets et al., 1997; Zhao et al., 2003). Congenital inguinal hernia (CIH) is a relatively common birth de- fect. Although little is known about its etiology, there are interesting Gene 519 (2013) 135–141 Abbreviations: FISH, fluorescence in situ hybridization array; CGH, array comparative genomic hybridization; Kb, kilo base; Mb, mega base; CIH, congenital inguinal hernia; PHA, phytohemagglutinin; ISCN 2009, International System for Human Cytogenetic Nomenclature (2009); BAC, bacterial artificial chromosome; dUTP, deoxyuridine triphosphate; DNA, deoxyribonucleic acid; OMIM, Online Mendelian Inheritance in Man; FAM20C, family with sequence similarity 20, member C; NCAM1, neural cell adhesion molecule 1; DRD2, dopamine receptor D2; THY-1, Thy-1 cell surface antigen; GRIK4, glutamate receptor, ionotropic, kainate 4; ROBO4, roundabout, axon guidance receptor, homolog 4 (Drosophila); CDON, cell adhesion associated, oncogene regulated; TNNT1, troponin T type 1; CASP1, caspase 1, apoptosis- related cysteine peptidase; IL1B, interleukin 1, beta; IL18, interleukin 18; IL33, in- terleukin 33; GRIA4, glutamate receptor, ionotropic, AMPA 4; GUCY1A2, guanylate cyclase 1, soluble, alpha 2; DRD2, dopamine receptor D2; NCAM1, neural cell adhe- sion molecule 1. ⁎ Corresponding author at: Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia. Tel./fax: +216 73 219 488. E-mail address: inessebenabdallah@yahoo.fr (I. Ben-Abdallah-Bouhjar). 0378-1119/$ – see front matter © 2013 Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.gene.2013.01.017 Contents lists available at SciVerse ScienceDirect Gene journal homepage: www.elsevier.com/locate/gene