Deletion 2q37: An identifiable clinical syndrome with mental retardation and autism

被引：24

作者：

Galasso, Cinzia ^{[1
]}

Lo-Castro, Adriana ^{[1
]}

Lalli, Cristina ^{[1
]}

Nardone, Anna Maria ^{[2
]}

Gullotta, Francesca ^{[2
]}

Curatolo, Paolo ^{[1
]}

机构：

[1] Univ Roma Tor Vergata, Pediat Neurol Unit, Dept Neurosci, I-00133 Rome, Italy

[2] Univ Roma Tor Vergata, Dept Med Genet, I-00133 Rome, Italy

来源：

JOURNAL OF CHILD NEUROLOGY | 2008年 / 23卷 / 07期

关键词：

chromosome 2q syndrome; 2q deletion syndrome; monosomy; 2q; mental retardation; autism;

D O I：

10.1177/0883073808314150

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：802 / 806

页数：5