Galasso Cinzia, Lo-Castro Adriana, Lalli Cristina, Nardone Anna Maria, Gullotta Francesca, Curatolo Paolo
Department of Neuroscience, Pediatric Neurology Unit, University of Rome, Rome, Italy.
J Child Neurol. 2008 Jul;23(7):802-6. doi: 10.1177/0883073808314150.
Terminal deletion of the long arm of chromosome 2 is a rare chromosomal disorder characterized by low birth weight, delayed somatic and mental development, craniofacial defects, short neck, heart and lung congenital defects, and autistic features. We report on a girl with 46,XX.ish del(2)(q37.1) de novo karyotype, mental retardation, dysmorphic features, gastrointestinal anomalies, and autistic traits and compare her clinical manifestations with patients with the same deletion previously described in literature.
2号染色体长臂的末端缺失是一种罕见的染色体疾病，其特征为低出生体重、躯体和智力发育迟缓、颅面缺陷、短颈、心肺先天性缺陷以及自闭症特征。我们报告了一名核型为46,XX.ish del(2)(q37.1)的新生女孩，她存在智力发育迟缓、畸形特征、胃肠道异常及自闭症特质，并将她的临床表现与文献中先前描述的相同缺失患者进行比较。
