Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.

Author:

Duba H C,Erdel M,Loffler J,Bereuther L,Fischer H,Utermann B,Utermann G

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. Partial duplication lq: report of four patients and review of the literature;Rasmussen, S.A.; Frias, J.L.; Lafer, C.Z.; Eunpu, D.L.; Zackai, E.H.;Am I Med Genet,1990

2. "De novo" trisomy 1 q32-qter and monosomy 3p25-3pter;Yunis, E.; Egel, H.; Zuniga, R.; Ramirez, E.; Torres de Caballero, O.M.; Leibovici, M.;Hum Genet,1977

3. Partial trisomy of chromosome No 1 in two adult brothers due to a maternal translocation (lq-; 6p+);Taysi, K.; Sekhon, G.S.;Hum Genet,1978

4. Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp(1; 7)(q32; q34);Schinzel, A.;Am _7 Med Geniet,1984

5. A further case of cyclopia due to unbalanced segregation of a previously reported rcp(1; 7)(q32; q34) familial translocation;Schinzel, A.;Amn _7 Med Genzet,1986

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