Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.
复制标题
两名 46,XX,t(X;Y) 女性，患有线性皮肤缺陷和先天性小眼症：Xp22.3 的一种新综合征。
作者：
L. Al;R. Mueller;A. Caine;A. Antoniou;A. McCartney;M. Fitchett;N. Dennis
我们描述了两名女性与新生的X;Y易位，谁提出了在出生时不规则的线性区域的皮肤发育不全，涉及头部和颈部，沿着与眼睛的发现，包括小眼球，角膜混浊，眼眶囊肿。这些儿童的特征与Goltz综合征和色素失禁的女性相似但不同。细胞遗传学分析显示，两只雌性动物的X染色体断裂点均位于Xp22.3。我们认为这种综合征是Xp22.3区域DNA序列缺失或破坏的结果。
We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. The features in these children are similar to but distinct from those seen in females with Goltz syndrome and incontinentia pigmenti. Cytogenetic analysis has shown the X chromosome breakpoint in both females to be at Xp22.3. We suggest that this syndrome is the result of a deletion or disruption of DNA sequences in the region of Xp22.3.