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三名非亲缘关系患者的10q部分三体综合征

Partial trisomy 10q in three unrelated patients.

作者信息

Taysi K, Yang V, Monaghan N, Beraha N

出版信息

Ann Genet. 1983;26(2):79-85.

PMID:6604490
Abstract

This communication describes three unrelated patients with growth and psychomotor retardation, multiple congenital anomalies, and dysmorphic features who were found to have trisomies for the different long arm segments of chromosome 10. After reviewing the clinical and cytogenetic data from the literature and our three patients we concluded that: a) There are at least two different clinical syndromes associated with long arm trisomy of chromosome 10 only one of which, the well known 10q trisomy syndrome, is characterized with specific clinical features. The only trisomic segment common in this latter group of patients with similar phenotype, yet with different trisomic segments, is the distal two bands, q25 and q26. Therefore the determinants for the well-delineated 10q trisomy syndrome seems to be located on the distal bands q25 and q26 and this syndrome would preferably be named "distal 10q trisomy syndrome". b) The patients with proximal and/or middle long arm segment trisomies of chromosome 10 are rare and they have yet undefined clinical features.

摘要

本报告描述了三名无血缘关系的患者,他们均有生长发育和精神运动发育迟缓、多种先天性异常及畸形特征,经检查发现其10号染色体不同长臂区段存在三体性。在查阅了文献及我们这三名患者的临床和细胞遗传学资料后,我们得出以下结论:a) 至少有两种不同的临床综合征与10号染色体长臂三体性相关,其中只有一种,即广为人知的10q三体综合征,具有特定的临床特征。在这组具有相似表型但三体区段不同的患者中,唯一共同的三体区段是远端的两条带,即q25和q26。因此,明确界定的10q三体综合征的决定因素似乎位于远端带q25和q26上,该综合征最好命名为“远端10q三体综合征”。b) 10号染色体近端和/或中间长臂区段三体性的患者较为罕见,其临床特征尚不明确。

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