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- W2997472658 abstract "To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.The karotypes of the proband and his parents were analyzed with routine G-banded chromosomal analysis. Genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) assay.The karyotype of the proband was 46,XY,add(1)(p36.3). No karyotypic abnormality was detected in either parent. aCGH has identified a de novo 25.1 Mb duplication at 1q42q44 in the proband.The de novo 1q42q44 duplication, which may be due to non-allelic homologous recombination mediated by low copy repeats, probably underlies the abnormalities in the proband." @default.
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- W2997472658 date "2017-06-10" @default.
- W2997472658 modified "2023-10-12" @default.
- W2997472658 title "[Phenotypic and genetic analysis of a boy with partial trisomy of 1q]." @default.
- W2997472658 doi "https://doi.org/10.3760/cma.j.issn.1003-9406.2017.03.019" @default.
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