Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
Journal of Korean Medical Science
; : 1798-1801, 2010.
Article
em En
| WPRIM
| ID: wpr-15531
Biblioteca responsável:
WPRO
ABSTRACT
The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
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Anormalidades Múltiplas
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Cromossomos Humanos Par 22
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Marcadores Genéticos
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Coloboma
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Ultrassonografia Pré-Natal
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Hibridização in Situ Fluorescente
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Anormalidades Craniofaciais
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Transtornos Cromossômicos
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Tetrassomia
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article