论文部分内容阅读
本文介绍1例因第3号染色体远端部分缺失所致3p25单体性的患儿。患儿生于75年7月5日。生后3天,因低热,喂养困难,外貌奇特而入院。母年38岁,父42岁;其姊11岁,兄10岁,均健康。母无流产史。母因结核病从18~38岁曾有规律地接受过X线拍片。患儿小如早产儿,轻度呼吸困难。手、足皮肤明显松弛,背部轻度多毛。头颅不对称,面部呈三角形,前发际低。眼球轻度斜视,眼睑下垂,两侧内眦赘皮明显。两耳锯齿状,左耳前轮有一凹窝。咀向下,唇薄,
This article describes a case of 3p25 monosomy due to the absence of the distal part of chromosome 3. Children born in July 75, 75. 3 days after birth, because of fever, feeding difficulties, looks strange and admitted to hospital. The mother of 38 years old, the father of 42 years old; the eldest 11 years old, brother 10 years old, are healthy. Female abortion history. Mother from tuberculosis from 18 to 38 years old had regular X-ray film. Small children, such as premature children, mild dyspnea. Hand, foot skin was significantly relaxed, back slightly hirsutism. Head asymmetric, triangular face, before the hair low. Mild strabismus, drooping eyelid, epicanthus on both sides of the epicanthus. Both ears jagged left ear front wheel has a dimple. Tsui downward, thin lips,