Wilroy R S, Summitt R L, Martens P, Gooch W M
Ann Genet. 1977 Dec;20(4):237-42.
A reciprocal translocation, 46,XX,rcp(13;17)(q13;p13), was found to be segregating in a family. Two children have duplication of the distal portion of the long arm of chromosome 13, 46,XX,der(17),rcp(13;17)(q13;p13)mat. They are mentally retarded, have long philtra and postaxial hexadactyly. A maternal half-uncle has a duplication of the short arm and proximal portion of the long arm of chromosome 13, 47,XY,+der(13),rcp (13;17)(q13;p13)mat. He is mentally retarded, has scalp and skull defects and a very short philtrum. A fetus was found, on analysis of amniotic fluid cells, to have a deletion of the distal portion of the long arm of chromosome 13, 46,XX,der,(13),rcp(13;17)(q13;p13)mat. The fetus had multiple internal abnormalities and only 4 fingers on each hand.
在一个家族中发现了一种相互易位，核型为46,XX,rcp(13;17)(q13;p13)。两个孩子存在13号染色体长臂远端部分的重复，核型为46,XX,der(17),rcp(13;17)(q13;p13)mat。他们智力发育迟缓，人中长，小指（趾）旁多生一个指（趾）。一位母亲的同父异母弟弟存在13号染色体短臂及长臂近端部分的重复，核型为47,XY,+der(13),rcp (13;17)(q13;p13)mat。他智力发育迟缓，有头皮和颅骨缺损，人中很短。通过对羊水细胞分析发现，一名胎儿存在13号染色体长臂远端部分的缺失，核型为46,XX,der,(13),rcp(13;17)(q13;p13)mat。该胎儿有多种内部异常，且每只手只有4根手指。
