Literature DB >> 25667990

Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior.

Lizeth Martínez-Jacobo1, Rocío Ortíz-López2, Alfredo Rizo-Méndez3, Viridiana García-Molina3, Sandra K Santuario-Facio4, Fernando Rivas5, Augusto Rojas-Martínez6.   

Abstract

This article describes a 19-year-old female with mild facial dysmorphism, asociality, decreased school performance, and psychotic behavior in whom the karyotype showed an extra-chromosomal marker characterized as 9p24.3-9q21.11 duplication by array-CGH. The 69Mbp duplicated segment in this patient includes the critical 9p duplication syndrome region, the GLDC and C90RF72 genes associated with psychotic behavior and other conduct disorders, and a potential locus for autism.
Copyright © 2015 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  9p duplication syndrome; Autism; Psychosis

Mesh：

Year:  2015        PMID： 25667990     DOI： 10.1016/j.gene.2015.02.010

Source DB:  PubMed          Journal:  Gene        ISSN： 0378-1119            Impact factor:   3.688


  7 in total

1.  An epigenetic association analysis of childhood trauma in psychosis reveals possible overlap with methylation changes associated with PTSD.

Authors:  Solveig Løkhammer; Anne-Kristin Stavrum; Tatiana Polushina; Monica Aas; Akiah A Ottesen; Ole A Andreassen; Ingrid Melle; Stephanie Le Hellard
Journal:  Transl Psychiatry       Date:  2022-04-30       Impact factor: 7.989

2.  Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Authors:  Christopher M Grochowski; Shen Gu; Bo Yuan; Julia Tcw; Kristen J Brennand; Jonathan Sebat; Dheeraj Malhotra; Shane McCarthy; Uwe Rudolph; Anna Lindstrand; Zechen Chong; Deborah L Levy; James R Lupski; Claudia M B Carvalho
Journal:  Hum Mutat       Date:  2018-05-11       Impact factor: 4.878

3.  Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.

Authors:  J B Wu; J Sha; J F Zhai; Y Liu; B Zhang
Journal:  Mol Cytogenet       Date:  2020-02-06       Impact factor: 2.009

4.  Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign.

Authors:  Fagui Yue; Yang Yu; Xinyue Zhang; Yuting Jiang; Leilei Li; Ruizhi Liu; Hongguo Zhang
Journal:  Medicine (Baltimore)       Date:  2021-01-22       Impact factor: 1.889

5.  Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder.

Authors:  Hidekazu Kato; Itaru Kushima; Daisuke Mori; Akira Yoshimi; Branko Aleksic; Yoshihiro Nawa; Miho Toyama; Sho Furuta; Yanjie Yu; Kanako Ishizuka; Hiroki Kimura; Yuko Arioka; Keita Tsujimura; Mako Morikawa; Takashi Okada; Toshiya Inada; Masahiro Nakatochi; Keiko Shinjo; Yutaka Kondo; Kozo Kaibuchi; Yasuko Funabiki; Ryo Kimura; Toshimitsu Suzuki; Kazuhiro Yamakawa; Masashi Ikeda; Nakao Iwata; Tsutomu Takahashi; Michio Suzuki; Yuko Okahisa; Manabu Takaki; Jun Egawa; Toshiyuki Someya; Norio Ozaki
Journal:  Transl Psychiatry       Date:  2020-12-05       Impact factor: 6.222

6.  Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray.

Authors:  Moonhee Oh; In-Jeong Cho; Saeam Shin; Seung-Tae Lee; Jong Rak Choi
Journal:  Ann Lab Med       Date:  2016-03       Impact factor: 3.464

7.  Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.

Authors:  Danijela Krgovic; Nadja Kokalj Vokac; Andreja Zagorac; Hojka Gregoric Kumperscak
Journal:  Sci Rep       Date:  2018-06-21       Impact factor: 4.379
  7 in total

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