江西发现一例人类罕见异常染色体 Jiangxi found a rare human abnormal chromosome

　　江西省妇幼保健院近日从一名3岁男孩身上发现一例人类罕见异常染色体核型：46，XY，dup(4)(p12p16)。据医院产前诊断中心主管技师李宇中介绍，这一异常染色体经中国医学遗传学国家重点实验室鉴定，属世界首次发现。

Maternal and children health care centers of jiangxi province recently from a three-year-old boy who find a rare human abnormal chromosome karyotype:46,xy,dup(4)(p12p16).According to the hospital prenatal diagnosis center director technician LiYuZhong is introduced,The abnormal chromosome the China medical genetics national key laboratory appraisal,Of the world for the first time found.

　　李宇中分析认为，这一染色体可能是在减速分裂时，同源染色体之间非对等交换或染色单体之间非对等交换形成重复片段而产生。根据基因的致病性程度，可能会导致患者先天性的非进行性智力低下，生长发育迟缓，并伴有五官、四肢、皮纹和内脏等方面的多发畸形症状。

LiYuZhong analysis think,The chromosome may be on the reduction divides,Between homologous chromosomes not peer exchange or chromatids not peer exchange between form repeat fragment and produce.According to the degree of the pathogenicity of genes,May result in patients with congenital progressive intelligence not low,Growth retardation,With facial features/limbs/Dermatoglyph and viscera of multiple malformation symptoms.

　　据介绍，这一染色体核型目前已录入中国人类染色体异常核型数据库，将有助于为类似症状患者找出病因。(记者 高皓亮)

According to introducing,The chromosome karyotype has entering China human chromosome abnormal karyotype database,Will help to find out the causes of patients with similar symptoms.(Reporter GaoHaoLiang)