Increasing cases of 9p syndrome have been reported since the first description in 1970. In the present case, a extra segment of the end of chromosome 9p resulting from a maternally inherited translocation t（4; 9）（q...Increasing cases of 9p syndrome have been reported since the first description in 1970. In the present case, a extra segment of the end of chromosome 9p resulting from a maternally inherited translocation t（4; 9）（q31 ;p24） was described in a liveborn boy with mental retardation and multiple congenital anomalies. The extra part of chromosome 9p includes segment of the chromosome region 4q31→qter of his mother but deletes a small segment 9p24→pter. To our knowledge, this is the first ease described in a liveborn child. This paper also includes a review and tabulation of clinical features seen in the 34 reported eases. The new ease had most characteristics reported eases besides worried-face, fat and abnormal lower digestion tract, which is a modification and double expansion of the previous summarization on 9p syndrome.展开更多
文摘Increasing cases of 9p syndrome have been reported since the first description in 1970. In the present case, a extra segment of the end of chromosome 9p resulting from a maternally inherited translocation t（4; 9）（q31 ;p24） was described in a liveborn boy with mental retardation and multiple congenital anomalies. The extra part of chromosome 9p includes segment of the chromosome region 4q31→qter of his mother but deletes a small segment 9p24→pter. To our knowledge, this is the first ease described in a liveborn child. This paper also includes a review and tabulation of clinical features seen in the 34 reported eases. The new ease had most characteristics reported eases besides worried-face, fat and abnormal lower digestion tract, which is a modification and double expansion of the previous summarization on 9p syndrome.
