Hamel B C, Mariman E C, van Beersum S E, Schoonbrood-Lenssen A M, Ropers H H
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Am J Med Genet. 1994 Jul 15;51(4):591-7. doi: 10.1002/ajmg.1320510459.
We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micrognathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be a manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3-q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at theta = 0.0).
我们报告了两兄弟及其两位舅舅，他们均患有严重智力发育迟缓、先天性心脏缺陷、腭裂或高拱腭、身材矮小以及颅面畸形，包括小头畸形、耳部异常、球根状鼻、鼻梁宽阔、颧骨发育不全和小颌畸形。四名患者中有三名早年死亡。两兄弟的母亲患有房间隔缺损。她被认为是一个突变基因的显性携带者，该基因在她的两个儿子和两个兄弟中表达。通过多点连锁分析发现，致病基因最可能的位置是Xp21.3-q21.3的着丝粒周围区域，以DMD和DXS3作为侧翼标记。使用标记DXS453获得了最大信息量（在θ = 0.0时Z = 1.20）。
