Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.

Ismail, Azli; Ahid, Fadly; Thong, Meow-Keong; Zakaria, Zubaidah

Ismail, Azli; Ahid, Fadly; Thong, Meow-Keong; Zakaria, Zubaidah.

Afiliação

Ismail A; Haematology Unit, Cancer Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, 40170, Shah Alam, Selangor, Malaysia.
Ahid F; Centre for Medical Laboratory Technology Studies, Faculty of Health Sciences, Universiti Teknologi MARA, 42300, Puncak Alam, Selangor, Malaysia. fadlyahid@uitm.edu.my.
Thong MK; Stem Cell and Regenerative Medicine Research Initiative Group, Universiti Teknologi MARA, 40450, Shah Alam, Selangor, Malaysia. fadlyahid@uitm.edu.my.
Zakaria Z; Department of Pediatrics, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.

J Med Case Rep ; 17(1): 250, 2023 Jun 10.

Article em En | MEDLINE | ID: mdl-37296475

Assuntos

Transtornos Cromossômicos; Deficiência Intelectual; Humanos; Hibridização Genômica Comparativa; Deficiência Intelectual/diagnóstico; Deficiência Intelectual/genética; Cromossomos Humanos Par 18/genética; Deleção Cromossômica; Transtornos Cromossômicos/diagnóstico; Transtornos Cromossômicos/genética

Palavras-chave

18q- deletion syndrome; Array-CGH; Congenital chromosomal disorder; Dysmorphism; Intellectual disability

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos Cromossômicos / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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