title: Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.
abstract: 22q11.2 microduplication syndrome was recently described as a new disorder with variable clinical features that ranged from normal to mental retardation and with congenital defects. According to published reports, majority of patients with 22q11.2 duplications inherit these from unaffected parents rather than by de novo mutations, which is different from most microduplication/microdeletion syndromes. In this study, we report a patient that carried a paternally inherited atypical 1.33Mb duplication at 22q11.23. The proband (or proposita) presented with hypotonia, feeding difficulties, intractable epilepsy, hearing disability, and pachygyria. A pachygyria phenotype had not been previously reported to be associated with a 22q11 microduplication syndrome. Cytogenetic and molecular genetic analyses based on standard G-banding, SNP array, and fluorescence in situ hybridization were performed for the proband and her parents. An atypical 1.33Mb duplication at 22q11.23 was detected in both the proband and her father. Thus, our findings verify the pathogenicity and diverse phenotypes of 22q11.2 microduplication and expand its phenotypic spectrum.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Jiazhen
authors.initials: J
authors.lastname: Chang
authors.affiliation: The Fourth Hospital of Shijiazhuang, Shijiazhuang, Hebei, P.R. China.
authors.forename: Lijuan
authors.initials: L
authors.lastname: Zhao
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Chen
authors.initials: C
authors.lastname: Chen
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Xia
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Guizhi
authors.initials: G
authors.lastname: Tang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Ting
authors.initials: T
authors.lastname: Bai
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Yanghui
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Ruiyu
authors.initials: R
authors.lastname: Ma
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Ruolan
authors.initials: R
authors.lastname: Guo
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Libin
authors.initials: L
authors.lastname: Mei
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.affiliation: The Fourth Hospital of Shijiazhuang, Shijiazhuang, Hebei, P.R. China. Electronic address: sjzcqy@126.com.
authors.forename: Qinying
authors.initials: Q
authors.lastname: Cao
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China. Electronic address: wulingqian@sklmg.edu.cn.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002675:Child, Preschool; D058674:Chromosome Duplication / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003582:Cytogenetics; D056915:DNA Copy Number Variations / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000473:pathology; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D054082:Lissencephaly / Q000235:genetics* / Q000473:pathology; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D012640:Seizures / Q000235:genetics* / Q000473:pathology
keywords: 22q11.2 duplication; Copy number variation analysis; Pachygyria; SNP array