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CASE REPORTS
JOURNAL ARTICLE
[Delineating a case with a complex karyotype by using combined genetic techniques].
Zhonghua Yi Xue Yi Chuan Xue za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 2017 August 11
OBJECTIVE: To explore the pathogenesis of a child with growth retardation, liver damage and congenital heart disease.
METHODS: G-banded chromosomal karyotyping, high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ hybridization(FISH) were used to characterize the structural chromosomal aberration.
RESULTS: The child was found to have a karyotype of 46, XX, t(1;2) (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21.3 and 7q21.11, respectively, which were verified by FISH.
CONCLUSION: Combined cytogenetic and molecular analysis can detect chromosome micrdeletions more precisely. The abnormalities of the child may be attributed to heterozygous deletion of ZEB2, ABCB4 and SEMA3A genes.
METHODS: G-banded chromosomal karyotyping, high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ hybridization(FISH) were used to characterize the structural chromosomal aberration.
RESULTS: The child was found to have a karyotype of 46, XX, t(1;2) (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21.3 and 7q21.11, respectively, which were verified by FISH.
CONCLUSION: Combined cytogenetic and molecular analysis can detect chromosome micrdeletions more precisely. The abnormalities of the child may be attributed to heterozygous deletion of ZEB2, ABCB4 and SEMA3A genes.
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