A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation.

Dincsoy Bir, Firdevs; Silan, Fatma; Velickovic, Jelena; Berkay Akcan, Mehmet; Ozdemir, Ozturk

Dincsoy Bir, Firdevs; Silan, Fatma; Velickovic, Jelena; Berkay Akcan, Mehmet; Ozdemir, Ozturk.

Afiliação

Dincsoy Bir F; Department of Medical Genetics, Erzurum Regional Training and Research Hospital, Erzurum, Turkey.
Silan F; Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.
Velickovic J; Laboratory diagnostics CITILAB, Belgrade, Serbia.
Berkay Akcan M; Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.
Ozdemir O; Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.

Mol Syndromol ; 13(3): 254-260, 2022 May.

Article em En | MEDLINE | ID: mdl-35707596

Palavras-chave

10q22.3q23.2 microdeletion; Atrial ventricular septal defect; Klinefelter syndrome; Language delay; Mosaicism

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article