Article (Scientific journals)
Monosomy 11q: Report of Two Familial Cases and Review of the Literature
Hustinx, Roland; Verloes, Alain; Grattagliano, B. et al.
1993In American Journal of Medical Genetics, 47 (3), p. 312-7
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Keywords :
Monosomy 11g; Trigonocephaly; Hypoplastic left heart syndrome; Familial translocation
Abstract :
[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.
Disciplines :
Human health sciences: Multidisciplinary, general & others
Author, co-author :
Hustinx, Roland  ;  Université de Liège - ULiège > Département des sciences cliniques > Médecine nucléaire
Verloes, Alain ;  Université de Liège - ULiège > Génétique générale et humaine
Grattagliano, B.
Herens, Christian ;  Centre Hospitalier Universitaire de Liège - CHU > PLAN COS
Jamar, Michelle ;  Centre Hospitalier Universitaire de Liège - CHU > HOPITAL DE JOUR ONCOLOGIQUE SART TILMAN
Soyeur, Daniel ;  Université de Liège - ULiège > Département des sciences cliniques > Cardiologie
Schaaps, Jean-Pierre ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Embryologie
Koulischer, Lucien ;  Université de Liège - ULiège > Relations académiques et scientifiques (Médecine)
Language :
English
Title :
Monosomy 11q: Report of Two Familial Cases and Review of the Literature
Publication date :
01 September 1993
Journal title :
American Journal of Medical Genetics
ISSN :
0148-7299
Publisher :
Wiley-Liss Inc, United States - New Jersey
Volume :
47
Issue :
3
Pages :
312-7
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 28 January 2010

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