Journel H, Lucas J, Allaire C, Le Mée F, Defawe G, Lecornu M, Jouan H, Roussey M, Le Marec B
Ann Genet. 1985;28(2):97-101.
An association between trisomy 11p15 and Beckwith-Wiedemann syndrome is described in two brothers. The first presented at birth with gigantism and macroglossia, umbilical hernia and abdominal distention, hypoglycemia and atresia of the pulmonary artery, leading to the diagnosis of Beckwith-Wiedemann syndrome. Facial dysmorphism also included: a hypoplastic midface, hypertelorism, and a short nose with a flattened bridge. The karyotype showed a trisomy 11p15 with a monosomy 18p11, due to a t(11;18)(p154;p111)pat. His brother, born a year later, showed the same signs. The association between trisomy 11p15 and Beckwith-Wiedemann syndrome is in certain cases well established.
在两兄弟中发现了11号染色体短臂15区三体与贝克威思-维德曼综合征之间的关联。第一个孩子出生时表现为巨人症、巨舌症、脐疝和腹胀、低血糖以及肺动脉闭锁，最终被诊断为贝克威思-维德曼综合征。面部畸形还包括：面中部发育不全、眼距过宽以及鼻梁扁平的短鼻。核型显示为11号染色体短臂15区三体伴有18号染色体短臂11区单体，原因是父源的t(11;18)(p154;p111)。他的弟弟在一年后出生，表现出相同的症状。在某些情况下，11号染色体短臂15区三体与贝克威思-维德曼综合征之间的关联已得到充分证实。
