Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.
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Xp22.3 微缺失综合征，伴有小眼、巩膜、线状皮肤缺损和先天性心脏缺陷。
DOI：
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发表时间：
1992
期刊：
影响因子：
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通讯作者：
G. Dewald
中科院分区：
文献类型：
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作者：
N. Lindor;V. Michels;D. S. Hoppe;D. Driscoll;J. Leavitt;G. Dewald
我们报告一名女婴，先天性肥大，面部和颈部线性皮肤病变，双侧小眼球，巩膜，白内障，和复杂的心脏异常，包括房间隔和室间隔缺损。该例患者存在Xp22.3微缺失，异常X染色体P臂上有一个随体，异常X染色体在外周血淋巴细胞和培养的皮肤成纤维细胞中呈晚期复制。其他4例类似的先天性异常和Xp缺乏症已被报道，并与此患者进行了比较。1例患者存在间质或末端缺失，但在其他患者中，易位至Xp22.3的物质是可变的（2例患者中存在Yq物质，1例患者中存在Yp物质和无法识别的卫星）。有几种机制表明，这种染色体异常可能会产生这种表型在这些患者。我们的病人是第一个患有这种综合症的先天性心脏病患者。
We report on an infant girl with congenital erythematous, linear skin lesions on face and neck, bilateral microphthalmia, sclerocornea, cataracts, and a complex cardiac anomaly including atrial septal and ventricular septal defects. This patient had an Xp22.3 microdeletion and a chromosome satellite on the abnormal X p-arm. The abnormal X chromosome was late replicating in peripheral blood lymphocytes and cultured skin fibroblasts. Four other patients with similar congenital anomalies and Xp deficiency have been reported previously and are compared with this patient. One patient had an interstitial or terminal deletion, but in others the material translocated to Xp22.3 was variable (Yq material in two patients, and Yp material and an unidentifiable satellite in one patient each). Several mechanisms are suggested by which this chromosome abnormality might produce this phenotype in these patients. Our patient is the first with this syndrome to have a congenital heart defect.