新生儿缺氧性脑病伴46,XX,-21,+t(21;21)罕见核型一例  

A Newborn Case of Hypoxic-Ischemic Encephalopathy Accompanied with 46,XX,-21,+t(21;21)

作　　者：付建华[1] 宁建英[2] 张青[1] 付睿婷[1] 李露霞[1] 

机构地区：[1]新疆石河子大学医学院,石河子832002 [2]新疆石河子大学医学院第一附属医院,石河子832002

出　　处：《遗传》2003年第4期396-396,共1页Hereditas（Beijing)

摘　　要：病例:患者,女,足月顺产,出生2h因口吐白沫30min由妇产科转儿科就诊. 体检:体重2700g;体温:36.9℃;皮肤弹性尚可,前囟门2.5×2.5cm,张力可,后矢状缝开口宽1mm,其余颅缝闭合.眼距宽,鼻根低平,眼裂小,眼裂外侧上斜,双手通贯掌,四肢肌张力低.临床诊断为新生儿缺氧性脑病.This report describes a cytogenetic aberration in one neonatal patient with hypoxic-ischemic en-cephalopathy. A rare karyotype,46 ,XX, - 21, +t(21; 21) , was detected. This de nono chromosomal abnormality may be caused by the meiotic non-disjunction of chromosomes during gametogenesis along with the formation of Robertsonian translocation between homologous chromosome 21.

关 键 词：新生儿 缺氧性脑病 核型 细胞遗传学 

分 类 号：R722.12[医药卫生—儿科]