Monosomy 11q: Report of Two Familial Cases and Review of the Literature

[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 :

Issue :

Pages :

312-7

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 28 January 2010

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Bibliography

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