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[Partial trisomy 13 due to maternal translocation t(2;13)].

作者信息

Giraud F, Mattei J F, Mattei M G

出版信息

Ann Genet. 1977 Sep;20(3):203-8.

PMID:304705
Abstract

The authors report an observation of partial trisomy 13p13 leads to qter and suggest a clinical map of chromosome 13. Increase of fetal hemoglobin seems to be controlled by region 1 of 13q. Bands q13 q14 and q21 seem to be responsible for inner organ malformations. Lastly, the distal segment q22 leads to qter is responsible for trigonocephaly and limb abnormalities.

摘要

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