A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome - Ben-Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M; Lacassie, Yves; et al. (Scientific reports, 2023)
Keywords: 631/208; 631/378; 692/420; 692/617; 692/699; Animal models; Breakpoints; Chromosome translocations; Cognitive ability; Copy number; Development Biology; Gene deletion; Genes; Humanities and Social Sciences; Hybridization; Intellectual disabilities; Kallmann's syndrome; Life Sciences; multidisciplinary; Mutation; Neurodevelopmental disorders; Next-generation sequencing; Patients; Phenotypes; Science; Science (multidisciplinary); Translocation