Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature |
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Authors: | Inesse Ben-Abdallah-Bouhjar Soumya Mougou-Zerelli Hanene Hannachi Hela Ben-Khelifa Najla Soyah Audrey Labalme Damien Sanlaville Hatem Elghezal Ali Saad |
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Institution: | 1. Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia;2. Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Tunisia;3. Paediatric Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia;4. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Lyon, France |
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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 33.4 Mb 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. |
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Keywords: | 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 interleukin 33 GRIA4 glutamate receptor ionotropic AMPA 4 GUCY1A2 guanylate cyclase 1 soluble alpha 2 DRD2 dopamine receptor D2 NCAM1 neural cell adhesion molecule 1 |
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