Reference : Monosomy 11q: Report of Two Familial Cases and Review of the Literature
Scientific journals : Article
Human health sciences : Multidisciplinary, general & others
http://hdl.handle.net/2268/19184
Monosomy 11q: Report of Two Familial Cases and Review of the Literature
English
Hustinx, Roland mailto [Université de Liège - ULg > Département des sciences cliniques > Médecine nucléaire]
Verloes, Alain [Université de Liège - ULg > > Génétique générale et humaine >]
Grattagliano, B. [> > > >]
Herens, Christian mailto [Centre Hospitalier Universitaire de Liège - CHU > > PLAN COS >]
Jamar, Michelle [Centre Hospitalier Universitaire de Liège - CHU > > HOPITAL DE JOUR ONCOLOGIQUE SART TILMAN >]
Soyeur, Daniel mailto [Université de Liège - ULg > Département des sciences cliniques > Cardiologie]
Schaaps, Jean-Pierre mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Embryologie >]
Koulischer, Lucien [Université de Liège - ULg > > Relations académiques et scientifiques (Médecine) >]
1-Sep-1993
American Journal of Medical Genetics
47
3
312-7
Yes (verified by ORBi)
International
0148-7299
[en] Monosomy 11g ; Trigonocephaly ; Hypoplastic left heart syndrome
[fr] Familial translocation
[en] We present four children from two families with the typical 11q- phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23.3) constitution. The father of the three other children had a 46,XY,t(11;17)(q23;p13) translocation. Despite associated partial deletion, three of the children had a typical 11q- phenotype. The fourth one, whose pregnancy was terminated in the second trimester, had a hypoplastic left heart but no other considered gross anomalies. A review of 36 previous cases, including 5 due to translocations (4 familial rearrangements, and 1 of unknown origin) is given with emphasis on the relationships between break-points and phenotype. Undescribed manifestations in our patients include agenesis of corpus callosum adactyly and malrotation of the gut.
http://hdl.handle.net/2268/19184

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