21号染色体完全单体性：一种临床上可识别的综合征？

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Full monosomy 21: a clinically recognizable syndrome?

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mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.

Mol Cytogenet. 2020 Sep 12;13:45. doi: 10.1186/s13039-020-00513-2. eCollection 2020.

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Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

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Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature.

Case Rep Genet. 2014;2014:965401. doi: 10.1155/2014/965401. Epub 2014 Feb 4.

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Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

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Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21.

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Hypogammaglobulinaemia in a patient with ring chromosome 21.

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Absence makes the search grow longer.

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Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

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Full monosomy 21: a clinically recognizable syndrome?

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21号染色体完全单体性：一种临床上可识别的综合征？

Full monosomy 21: a clinically recognizable syndrome?

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