A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.

Zhuang, Jianlong; Xie, Meihua; Yao, Jianfeng; Fu, Wanyu; Zeng, Shuhong; Jiang, Yuying; Wang, Yuanbai; Xie, Yingjun; Wang, Gaoxiong; Chen, Chunnuan

Zhuang, Jianlong; Xie, Meihua; Yao, Jianfeng; Fu, Wanyu; Zeng, Shuhong; Jiang, Yuying; Wang, Yuanbai; Xie, Yingjun; Wang, Gaoxiong; Chen, Chunnuan.

Afiliação

Zhuang J; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, People's Republic of China.
Xie M; Prenatal Diagnosis Center, Yueyang Central Hospital, Yueyang, 414000, People's Republic of China.
Yao J; Department of Women Healthcare, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, People's Republic of China.
Fu W; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, People's Republic of China.
Zeng S; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, People's Republic of China.
Jiang Y; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, People's Republic of China.
Wang Y; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, People's Republic of China.
Xie Y; Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Third Affiliated Hospital of Guangzhou Medical University, Guanghzou, 510150, People's Republic of China. xi
Wang G; Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, People's Republic of China. xieyjun@mail2.sysu.edu.cn.
Chen C; Quanzhou Women's and Children's Hospital, Quanzhou, 362000, People's Republic of China. wanggaoxiong2013@163.com.

BMC Med Genomics ; 16(1): 3, 2023 01 09.

Article em En | MEDLINE | ID: mdl-36624491

Assuntos

Deficiência Intelectual; Transtornos do Desenvolvimento da Linguagem; Humanos; Aberrações Cromossômicas; Deficiência Intelectual/genética; Deficiência Intelectual/diagnóstico; Quinases Ativadas por p21/genética; Fenótipo; Convulsões/genética; China

Palavras-chave

1q44 microdeletion; Chromosomal microarray analysis; Developmental delay; Intellectual disability; Seizures; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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