8号染色体短臂间质性缺失：1例患者报告及文献复习
Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature.
作者信息
Plomp A S, Schrander-Stumpel C T, Engelen J J, Sijstermans J M, Loneus W H, Fryns J P
机构信息
Division of Molecular Celbiology and Genetics, Academic Hospital, Maastricht, The Netherlands.
出版信息
Genet Couns. 1995;6(1):55-60.
PMID:7794563
Abstract
We report a mentally retarded girl with minimal dysmorphic signs. Cytogenetic examination showed an interstitial deletion of chromosome 8: 46, XX, del(8)(p21.2p22). This deletion has not been reported before. We compare the patient with the literature data.
摘要
我们报告了一名患有轻度畸形体征的智力发育迟缓女孩。细胞遗传学检查显示8号染色体存在间质缺失：46, XX, del(8)(p21.2p22)。此前尚未报道过这种缺失。我们将该患者与文献数据进行了比较。
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