[Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(6): 857-860, 2017 Dec 10.
Article
em Zh
| MEDLINE
| ID: mdl-29188616
ABSTRACT
OBJECTIVE:
To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays.METHODS:
The fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray.RESULTS:
The fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11.32 and 18p11.21, which was verified by the SNP-array assay as a 18.3 Mb duplication occurring at 18p11.32q11.1.CONCLUSION:
The karyotype of the fetus was determined as 47,XX,+der18(18p11.32?18q11.118q11.1?18p11.32). The duplication has involved important genes including SMCHD1, LPIN2 and TGIF1, which may result in severe malformations in the fetus.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
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Polimorfismo de Nucleotídeo Único
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Análise em Microsséries
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2017
Tipo de documento:
Article