Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
作者: Meriam Hadj AmorSarra DimassiAmel TajWafa SlimaniHanene HannachiAdnene MlikaKhaled Ben HelelAli SaadSoumaya Mougou-Zerelli
作者单位: 1Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia
2High Institute of Biotechnology, Monastir University, 5000, Monastir, Tunisia
3Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Ibn El Jazzar street, 4000, Sousse, Tunisia
4Pediatric department, Farhat Hached University Teaching Hospital, Ibn El Jazzar street, 4000, Sousse, Tunisia
5Pediatric department, Ibn Jazzar University Teaching Hospital, Ibn El Jazzar Street, 3100, Kairouan, Tunisia
刊名: BMC Medical Genetics, 2020, Vol.21 (7), pp.1515-1520
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-020-0966-9
关键词: CHL1Miller-Dieker syndrome critical regionPAFAH1B1Partial monosomy 3p26.2Partial trisomy 17p13.3
英文摘要: Abstract(#br)Background(#br)While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods(#br)In this study, we report on clinical and cytogenetic characterization of two new cases involving 17p13.3 and 3p26 chromosomal regions in two sisters with familial history of lissencephaly. Fluorescent In Situ Hybridization and array Comparative Genomic Hybridization were performed. Results(#br)A deletion including the critical region of the Miller-Dieker syndrome of at least 2,9 Mb and a duplication of at least 3,6 Mb on the short arm of chromosome 3 were highlighted in one case. The...
全文获取路径: Springer Nature  (合作)
影响因子:2.536 (2012)