5号染色体短臂纯合部分三体性
Pure partial trisomy of the short arm of chromosome 5.
作者信息
Rethoré M O, Blois M C, Peeters M, Popowski P, Pangalos C, Lejeune J
机构信息
Recherches INSERM, Institut de progenèse, Paris, France.
出版信息
Hum Genet. 1989 Jun;82(3):296-8. doi: 10.1007/BF00291177.
PMID:2731942
Abstract
We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32----5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.
摘要
我们描述了一名具有多种畸形特征的男婴，由于重组非整倍体，其5号染色体片段p13.32----p14.2三体。他的父亲是该染色体片段倒位插入的平衡携带者。将该患者的临床特征与文献中报道的其他孤立性部分5p三体患者的特征进行了比较。
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