Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)

Author:

Chen Rongyu,Li Chuan,Xie Bobo,Wang Jin,Fan Xin,Luo Jingsi,Hu Xuyun,Chen Shaoke,Shen Yiping

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference25 articles.

1. Mattina T, Perrotta CS, Grossfeld P: Jacobsen syndrome. Orphanet J Rare Dis 2009, 4: 9. 10.1186/1750-1172-4-9

2. Francke U, Weber F, Sparkes RS, Mattson PD, Mann J: Duplication 11 (q21 to 23 leads to qter) syndrome. Birth Defects Orig Artic Ser 1977,13(3B):167–186.

3. Pihko H, Therman E, Uchida IA: Partial 11q trisomy syndrome. Hum Genet 1981,58(2):129–134. 10.1007/BF00278696

4. de France HF, Beemer FA, Senders RC, Gerards LJ, Cats BP: Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture. Clin Genet 1984,25(3):295–299. 10.1111/j.1399-0004.1984.tb01992.x

5. Greig F, Rosenfeld W, Verma RS, Babu KA, David K: Duplication 11 (11q22 -.qter) in an infant: a case report with review. Ann Genet 1985,28(3):185–188.

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