Mori M A, Rodriguez L, Pinel I, Casas J M, Diaz de Bustamante A, Martinez-Frias M L
Spanish Colaborative Study of Congenital Malformations, ECEMC, Catedra de Anatonia II, Facultad de Medicina, Universidad Complutense, Madrid.
Ann Genet. 1987;30(4):246-8.
We report a 2-years-old infant who presented psychomotor delay and facial dysmorphic features. He has a partial monosomy of 15q resulting from de novo t(15;22)(q15;p11). Up to now three other cases with a similar 15q monosomy have been reported, but the present case is the first one with a "pure" monosomy 15q.
我们报告了一名2岁婴儿，其出现精神运动发育迟缓及面部畸形特征。他因新发t(15;22)(q15;p11)导致15q部分单体性。截至目前，已有另外3例具有类似15q单体性的病例被报道，但本病例是首例“纯”15q单体性病例。
