一例10q25.2----q26.1间质性缺失病例。
A case of interstitial deletion of 10q25.2----q26.1.
作者信息
Rooney D E, Williams K, Coleman D V, Habel A
机构信息
Cytogenetics Unit, St Mary's Hospital, London.
出版信息
J Med Genet. 1989 Jan;26(1):58-60. doi: 10.1136/jmg.26.1.58.
Abstract
A de novo interstitial deletion of chromosome 10, del(10)(pter----q25.2::q26.1----qter), was detected in a newborn female with facial anomalies, failure to thrive, and subsequent developmental delay. This case is compared with 10 previous reports of monosomy 10q within the q25----qter region.
摘要
在一名患有面部畸形、生长发育迟缓及随后出现发育延迟的新生女婴中，检测到10号染色体的新发间质性缺失，即del(10)(pter----q25.2::q26.1----qter)。将该病例与之前10篇关于10q25----qter区域内10号染色体单体性的报道进行了比较。
Zotero 插件