UNASSIGNED: A 2-month-old male infant with a history of weakness in feeding, frequent convulsions, and an increase in cyanosis two days ago. There were multiple skeletal deformities and a tendency to spasm in the extremities, left ventricular atrophy, mitral atresia, atrial septal defect, ventricular septal defect with dilated right cavities, tricuspid valve regurgitation, pulmonary valve stenosis; and the aorta exits in the right ventricle. There is a widening of the subdural space, which was observed in the left frontal-parietal side with cortical atrophy in that area and a widening of the Sylvian fissure. A karyotype test confirmed the presence of Edward and Klinefelter syndromes.
UNASSIGNED: Aneuploidy is a chromosomal issue characterized by an abnormal number of a chromosome copies. The coexistence of two aneuploidies is called \"double aneuploidy\" which is a rare occurrence. Herein, we report a case of a 2-month-old male with Edward syndrome and Klinefelter syndrome.
UNASSIGNED: This publication aims to highlight the challenges in diagnosing and treating a complicated genetic disease.
■有喂养无力史的2个月大男婴,频繁的抽搐,两天前还出现了紫癜.四肢有多处骨骼畸形和痉挛倾向,左心室萎缩,二尖瓣闭锁,房间隔缺损,室间隔缺损伴右腔扩张,三尖瓣返流,肺动脉瓣狭窄;主动脉在右心室退出。硬膜下空间扩大了,在左额顶侧观察到该区域的皮质萎缩和Sylvian裂的扩大。核型测试证实了爱德华和克氏综合征的存在。
■非整倍体是一种染色体问题,其特征是染色体拷贝数异常。两种非整倍体的共存被称为“双非整倍体”,这是一种罕见的现象。在这里,我们报告了一例2个月大的男性,患有爱德华综合征和Klinefelter综合征。
■本出版物旨在强调诊断和治疗复杂遗传病的挑战。