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8号和21号染色体的双常染色体三体及嵌合体现象。

Double autosomal trisomy and mosaicism for chromosomes no. 8 and no. 21.

作者信息

Wilson M G, Fujimoto A, Alfi O S

出版信息

J Med Genet. 1974 Mar;11(1):96-101. doi: 10.1136/jmg.11.1.96.

Abstract

This patient was found to have a previously unreported double trisomy for chromosomes No. 8 and No. 21. She was recognized to have Down's syndrome at birth, and her subsequent development was consistent with that diagnosis. Her general health was good and there were no features suggesting an additional chromosomal abnormality. At this time there is no clearly recognized phenotype associated with trisomy 8. Two non-disjunctional events, occurring in meiosis and/or post-zygotic mitosis, are possible explanations of the chromosomal abnormalities found in this patient.

摘要

该患者被发现存在先前未报道过的8号和21号染色体双三体情况。她出生时就被诊断为唐氏综合征,随后的发育情况也与该诊断相符。她的总体健康状况良好,没有任何特征表明存在额外的染色体异常。目前,尚未明确识别出与8号染色体三体相关的特定表型。在减数分裂和/或合子后有丝分裂中发生的两次不分离事件,可能是该患者染色体异常的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f64b/1013095/59d7556425b1/jmedgene00318-0101-a.jpg

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