Kleczkowska A, Fryns J P, Lemli L, Van den Berghe H
Center for Human Genetics, University of Leuven, Belgium.
Genet Couns. 1992;3(1):49-52.
In this report, we describe a 6 month old girl with a "pure" deletion 9 (pter----p22:) of paternal origin and very discrete facial dysmorphism as the only minimal phenotypic expression of the chromosomal imbalance. We hypothesize that the phenotypic expression in pure 9p deletion may depend from its parental origin.
在本报告中，我们描述了一名6个月大的女孩，其具有父源的“纯”9号染色体缺失（pter----p22:），且面部畸形非常不明显，这是染色体失衡的唯一最小表型表现。我们推测，纯9p缺失的表型表达可能取决于其亲本来源。
