反向串联重复导致8号染色体短臂的重复缺失。
Inverted tandem duplication generates a duplication deficiency of chromosome 8p.
作者信息
Dill F J, Schertzer M, Sandercock J, Tischler B, Wood S
机构信息
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
出版信息
Clin Genet. 1987 Aug;32(2):109-13. doi: 10.1111/j.1399-0004.1987.tb03335.x.
An adult female with sever mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (p12----p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23----8pter, showed that the patient was monosomic for this marker. Thus the de novo rearrangement generated a duplication-deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are discussed.
本文描述了一名患有严重智力障碍和畸形特征的成年女性。发现了一种涉及8号染色体短臂（8p）的新发染色体畸变。核型为46, XX, inv dup (8) (p12----p23.1)。使用位于8p23----8p末端的DNA探针D8S7进行的剂量研究表明，该患者对此标记物为单体型。因此，这种新发重排产生了一条重复-缺失染色体。本文讨论了这条异常染色体形成的可能机制。
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