Byth B C, Costa M T, Teshima I E, Wilson W G, Carter N P, Cox D W
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
J Med Genet. 1995 Jul;32(7):564-7. doi: 10.1136/jmg.32.7.564.
Two patients and one three generation family with interstitial deletions of distal chromosome band 14q31 are described. The deletions were initially identified by chromosome analysis; we have used highly informative simple sequence repeat polymorphisms to define the deletions at the molecular level. This analysis also establishes the parental origin of the deleted chromosome. One of the patients was initially described as having a terminal deletion of chromosome 14 from 14q31 to 14qter; we show here that this child has instead an interstitial deletion of band 14q31. The smallest deletion involves a single anonymous DNA marker and is associated with an almost normal phenotype. The two patients with larger deletions have phenotypes similar to those seen in previously described cases of interstitial deletions of chromosome 14, including minor dysmorphic features and developmental delay. Delineation of these deletions allows the ordering of markers within the 14q31 region, in which the gene for the degenerative neurological disorder Machado-Joseph disease is localised.
本文描述了两例患者以及一个三代家族，他们均存在远端染色体带14q31的间质性缺失。这些缺失最初是通过染色体分析确定的；我们利用信息丰富的简单序列重复多态性在分子水平上定义了这些缺失。该分析还确定了缺失染色体的亲本来源。其中一名患者最初被描述为染色体14从14q31到14qter的末端缺失；我们在此表明，这个孩子实际上是14q31带的间质性缺失。最小的缺失涉及一个单一的匿名DNA标记，并且与几乎正常的表型相关。另外两名有较大缺失的患者的表型与先前描述的染色体14间质性缺失病例中所见的表型相似，包括轻微的畸形特征和发育迟缓。对这些缺失的描绘使得能够对14q31区域内的标记进行排序，退行性神经疾病马查多 - 约瑟夫病的基因就定位在该区域。
