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- W2419041970 abstract "OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child." @default.
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- W2419041970 date "2015-10-01" @default.
- W2419041970 modified "2023-10-16" @default.
- W2419041970 title "[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion]." @default.
- W2419041970 doi "https://doi.org/10.3760/cma.j.issn.1003-9406.2015.05.019" @default.
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