Identification of carrier status of Xp22.31 microdeletions associated with X-linked ichthyosis at the single-cell level using haplotype linkage analysis by karyomapping.

Yang, Jingya; Shi, Hao; Niu, Wenbin; Bao, Xiao; Liu, Han; Chen, Chuanju; Jin, Haixia; Song, Wenyan; Sun, Yingpu

Yang, Jingya; Shi, Hao; Niu, Wenbin; Bao, Xiao; Liu, Han; Chen, Chuanju; Jin, Haixia; Song, Wenyan; Sun, Yingpu.

Afiliação

Yang J; Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Shi H; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Niu W; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Bao X; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Liu H; Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Chen C; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Jin H; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Song W; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Sun Y; Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.

J Assist Reprod Genet ; 40(7): 1735-1746, 2023 Jul.

Article em En | MEDLINE | ID: mdl-37154837

Assuntos

Transtornos Cromossômicos; Ictiose; Diagnóstico Pré-Implantação; Gravidez; Feminino; Humanos; Haplótipos/genética; Testes Genéticos/métodos; Diagnóstico Pré-Implantação/métodos; Alelos; Aneuploidia

Palavras-chave

Haplotype linkage analysis; Karyomapping; Microdeletions; PGT-M; X-linked ichthyosis

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Implantação / Transtornos Cromossômicos / Ictiose Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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