title: Psychomotor retardation with a 1q42.11-q42.12 deletion.
abstract: A 1q42 deletion is a rare structure variation that commonly harbours various deletion breakpoints along with diversified phenotypes. In our study, we found ade novo1q42 deletion in a boy who did not have a cleft palate or a congenital diaphragmatic hernia but presented with psychomotor retardation. A 1.9 Mb deletion located within 1q42.11-q42.12 was validated at the molecular cytogenetic level. This is the first report of a 1q42.11-q42.12 deletion in a patient with onlypsychomotor retardation. The precise break points could facilitate the discovery of potential causative genes, such asLBR, EPHX1, etc. The correlation between the psychomotor retardation and the underlying genetic factors could not only shed light on the diagnosis of psychomotor retardation at the genetic level but also provide potential therapeutic targets.
authors.affiliation: Experimental Animal Center, Research Institute for National Health and Family Planning Commission, Tai hui temple road, NO. 12, Haidian District, Beijing, 100081 People's Republic of China.
authors.forename: Jialing
authors.initials: J
authors.lastname: He
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510080 China.
authors.forename: Yingjun
authors.initials: Y
authors.lastname: Xie
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510080 China.
authors.forename: Shu
authors.initials: S
authors.lastname: Kong
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510080 China.
authors.forename: Wenjun
authors.initials: W
authors.lastname: Qiu
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510080 China.
authors.forename: Xiaoman
authors.initials: X
authors.lastname: Wang
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510080 China.
authors.forename: Ding
authors.initials: D
authors.lastname: Wang
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510080 China.
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Sun
authors.affiliation: Experimental Animal Center, Research Institute for National Health and Family Planning Commission, Tai hui temple road, NO. 12, Haidian District, Beijing, 100081 People's Republic of China.
authors.forename: Deming
authors.initials: D
authors.lastname: Sun
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide
keywords: 1q42 deletion; Genotype-phenotype correlation; Microarray analysis; Psychomotor retardation