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Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study
Yonsei Medical Journal ; : 1463-1470, 2013.
Artigo em Inglês | WPRIM | ID: wpr-100952
ABSTRACT

PURPOSE:

This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. MATERIALS AND

METHODS:

We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012.

RESULTS:

A total of 190 patients were identified. Mean age was 5.1+/-1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings.

CONCLUSION:

Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Atenção Terciária à Saúde / Estudos Retrospectivos / Dosagem de Genes / Hibridização Genômica Comparativa / República da Coreia / Cariótipo / Deficiência Intelectual Tipo de estudo: Estudo observacional Limite: Adolescente / Adulto / Criança / Criança, pré-escolar / Feminino / Humanos / Lactente / Masculino País/Região como assunto: Ásia Idioma: Inglês Revista: Yonsei Medical Journal Ano de publicação: 2013 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Atenção Terciária à Saúde / Estudos Retrospectivos / Dosagem de Genes / Hibridização Genômica Comparativa / República da Coreia / Cariótipo / Deficiência Intelectual Tipo de estudo: Estudo observacional Limite: Adolescente / Adulto / Criança / Criança, pré-escolar / Feminino / Humanos / Lactente / Masculino País/Região como assunto: Ásia Idioma: Inglês Revista: Yonsei Medical Journal Ano de publicação: 2013 Tipo de documento: Artigo