A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 501-504, 2016.
Article
em Zh
| WPRIM
| ID: wpr-247648
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype.</p><p><b>METHODS</b>G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH).</p><p><b>RESULTS</b>G banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype. SNP-array has identified a hemizygous deletion of 13.3 Mb on chromosome 4p16.3p15.33, which has been implicated in Wolf-Hirschhorn syndrome. FISH assay has confirmed the de novo origin of the deletion, with the karyotype and clinical phenotype of both parents taken into consideration.</p><p><b>CONCLUSION</b>A case of Wolf-Hirschhorn syndrome has been diagnosed by clinical manifestation and karyotyping analysis. Compared with conventional karyotyping analysis, SNP-array has greater resolution and accuracy, and can provide useful information for genetic counseling.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Bandeamento Cromossômico
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Hibridização in Situ Fluorescente
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Análise de Sequência com Séries de Oligonucleotídeos
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Polimorfismo de Nucleotídeo Único
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Síndrome de Wolf-Hirschhorn
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Genética
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Cariotipagem
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Female
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Humans
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Newborn
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Article