Krajewska-Walasek M, Chrzanowska K, Tylki-Szymańska A, Białecka M
Department of Genetics, Memorial Hospital - Child Health Centre, Warsaw, Poland.
Clin Genet. 1995 Jun;47(6):324-7. doi: 10.1111/j.1399-0004.1995.tb03974.x.
We report on a family in which a girl and a boy in the same sibship show variable manifestations of a less severe type of Brachmann-de Lange syndrome without significant prenatal growth deficiency and reduction deformities of the forearms. Both parents are healthy and phenotypically normal, and no other family members are affected. All the affected sibs except one described so far with normal parents presented the severe type of Brachmann-de Lange syndrome (now sometimes classified as type I: "classic" or "full" Brachmann-de Lange syndrome), with major upper limb anomalies, severe growth and mental retardation and, frequently, early death. We discuss the possible role of genomic imprinting in the etiology of this syndrome.
我们报告了一个家庭，该家庭中同一同胞关系的一个女孩和一个男孩表现出症状较轻的布腊克曼-德朗热综合征的不同表现，且无明显的产前生长发育迟缓以及前臂缩短畸形。父母双方均健康且表型正常，没有其他家庭成员受到影响。到目前为止，除了一名患者父母正常外，所有其他受影响的同胞均表现为严重类型的布腊克曼-德朗热综合征（现在有时被归类为I型：“经典”或“完全型”布腊克曼-德朗热综合征），伴有严重的上肢异常、严重的生长发育和智力迟缓，且常常早夭。我们讨论了基因组印记在该综合征病因学中的可能作用。
