Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13.

Kaya, Murat; Suer, Ilknur; Kalayci, Tugba; Karaman, Birsen; Ozturk, Sukru; Palanduz, Sukru

Kaya, Murat; Suer, Ilknur; Kalayci, Tugba; Karaman, Birsen; Ozturk, Sukru; Palanduz, Sukru.

Afiliação

Kaya M; Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Suer I; Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Kalayci T; Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Karaman B; Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, Istanbul, Turkey.
Ozturk S; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Palanduz S; Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

Scott Med J ; 67(4): 173-177, 2022 Nov.

Article em En | MEDLINE | ID: mdl-35862016

Assuntos

Infertilidade; Deficiência Intelectual; Cromossomos em Anel; Masculino; Humanos; Cromossomos Humanos Par 13; Deficiência Intelectual/complicações; Deficiência Intelectual/genética; Cariotipagem; Proteínas Cromossômicas não Histona/genética; Fosfoproteínas/genética

Palavras-chave

CHAMP1 gene; Ring chromosome 13; infertility; mild intellectual disability

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos em Anel / Infertilidade / Deficiência Intelectual Limite: Humans / Male Idioma: En Revista: Scott Med J Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Turquia

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