Xp Microdeletion Syndrome Characterized by Pathognomonic Linear Skin Defects on the Head and Neck
Xp Microdeletion Syndrome Characterized by Pathognomonic Linear Skin Defects on the Head and Neck
复制标题
以头部和颈部特征性线性皮肤缺损为特征的 Xp 微缺失综合征
作者：
B. Paulger;E. Kraus;D. Pulitzer;C. Moore
摘要：我们描述了一例以眼部异常和病理性线状皮肤缺损为特征的罕见综合征的新病例。这种综合征是X染色体短臂末端缺失的不平衡易位的结果。我们报告了第13例，并回顾了这种疾病的临床和细胞遗传学方面。此外，我们还讨论了与皮肤病变的组织病理学有关的新发现。
Abstract: We describe a new case of a rare syndrome characterized by ocular abnormalities and pathognomonic linear skin defects. This syndrome is the result of an unbalanced translocation resulting in a deletion of the distal end of the short arm of the X chromosome. We report the thirteenth case and review the clinical and cytogenetic aspects of this disorder. In addition we discuss new findings pertaining to the histopathology of the skin lesions.