Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 460-464, 2012.
Article
em Zh
| WPRIM
| ID: wpr-355944
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To confirm the diagnosis of a Wolf-Hirschhorn syndrome by family study using both cytogenetic and molecular genetic techniques.</p><p><b>METHOD</b>G-band karyotyping was performed for all the 6 members in the family. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the chromosome abnormality for the proband, his father and brother. Microarray comparative genomic hybridization (Array-CGH) was carried out to map the exact chromosomal breakpoints for the proband.</p><p><b>RESULT</b>The proband presented with a typical face, delayed growth and hypotonia in Wolf-Hirschhorn syndrome. His G-band karyotype was 46, XY, der(4)t(4;8) (p16.2; p23.1)pat. MLPA showed 4pter loss and 8pter gain. Array-CGH revealed an XY male with a 3.781 Mb deletion of 4p16.3-p16.2 and a 6.760 Mb duplication of 8p23.3-p23.1. The proband's brother has mental retardation and skeletal abnormalities. His G-band karyotype was 46, XY, der(8)t(4;8)(p16.2;p23.1)pat. MLPA showed 4pter gain and 8pter loss. The proband's father had normal phenotype with a balanced translocation of 46, XY, t(4;8)(p16.2;p23.1)pat. MLPA showed a normal result. The proband's grandfather showed a normal phenotype with a balanced translocation 46, XY, t(4;8)(p16.2;p23.1). The other members in the family showed normal phenotypes with normal karyotypes.</p><p><b>CONCLUSION</b>The proband has features of Wolf-Hirschhorn syndrome with partial monosomy 4p and partial trisomy 8p. The proband's brother has a partial trisomy 4p and partial monosomy 8p. The derived chromosomes are inherited from paternal balanced translocation t(4;8)(p16.2;p23.1).</p>
Texto completo:
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Índice:
WPRIM
Assunto principal:
Linhagem
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Fenótipo
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Translocação Genética
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Trissomia
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Anormalidades Múltiplas
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Cromossomos Humanos Par 4
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Cromossomos Humanos Par 8
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Deleção Cromossômica
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Análise de Sequência com Séries de Oligonucleotídeos
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Diagnóstico
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
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Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2012
Tipo de documento:
Article