PDF(Pubmed)
Abstract：
UNASSIGNED: Edward syndrome is a severe chromosomal defect that occurs as a result of non-disjunction through meiosis. It presents with cardiac septal defects, horseshoe kidneys, patent ductus arteriosus, central nervous system dysgenesis, distinctive craniofacial deformities, and overriding or overlapping fingers. Klinefelter syndrome (47, XXY) is found in 1 in 660 newborn males. It is considered to be one of the most common genetic causes of infertility. It manifests with small firm testes, androgen insufficiency, and azoospermia.
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.
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.
摘要：
■爱德华综合征是一种严重的染色体缺陷，由于减数分裂不分离而发生。它表现为心脏间隔缺损，马蹄形肾,动脉导管未闭,中枢神经系统发育不全,独特的颅面畸形，覆盖或重叠的手指。在660名新生男性中发现了Klinefelter综合征（47，XXY）。它被认为是不孕症最常见的遗传原因之一。它表现为小公司的睾丸，雄激素不足,和无精子症.
■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。
■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。
