SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.
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两姐妹患有 SC 海藻综合症、着丝粒过早分离和先天性脑神经麻痹，其中一人患有恶性黑色素瘤。
DOI：
10.1002/ajmg.1320240410
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
J. Cowan
中科院分区：
文献类型：
--
作者：
D. Parry;J. Mulvihill;S. Tsai;M. Kaiser;J. Cowan
两个中年姐妹篇的SC短肢畸形综合征的大多数表现，包括出生后生长迟缓，对称的肢体缺陷与放射状发育不全和拇指缺失，面部畸形与小头畸形，小眼，发育不良的鼻翼，和边缘到轻度精神发育迟滞。不寻常的发现包括先天性麻痹的一些颅神经在两名患者和恶性黑色素瘤的先证者。从两个病人培养的淋巴细胞，皮肤成纤维细胞，爱泼斯坦巴尔病毒转化的淋巴细胞，和肿瘤细胞的先证者表现出过早分离的着丝粒异染色质（PCS）的许多染色体，发现以前在SC短肢综合征和类似的，但更严重的罗伯茨综合征。姐妹篇和其他15名患有综合征和PCS的患者的表型广泛重叠，证实这些是等位基因条件或相同的疾病-指定为Roberts-SC短肢综合征。PCS在综合征中的作用仍不确定，因为据报道，一些具有特征性临床表型的患者缺乏PCS。
Two middle age sisters had most manifestations of the SC phocomelia syndrome including postnatal growth retardation, symmetric limb deficiencies with radial aplasia and absent thumbs, facial anomalies with microcephaly, microphthalmia, hypoplastic nasal alae, and borderline to mild mental retardation. Unusual findings included congenital paralysis of some cranial nerves in both patients and malignant melanoma in the proposita. Cultured lymphocytes from both patients, and skin fibroblasts, Epstein Barr virus-transformed lymphocytes, and tumor cells from the proposita demonstrated premature separation of centromeric heterochromatin (PCS) of many chromosomes, a finding noted previously in the SC phocomelia syndrome and the similar but more severe Roberts syndrome. Extensive overlap of the phenotypes of the sisters and 15 other patients with either syndrome and PCS confirms that these are either allelic conditions or the same disease--designated Roberts-SC phocomelia syndrome. The role of PCS in the syndrome(s) remains uncertain since some patients with the characteristic clinical phenotypes are reported to lack it.
罗伯茨综合征成纤维细胞细胞分裂周期的异常：表型特征的细胞基础？
影响因子：
9.8
作者：
Tomkins,DJ;Sisken,JE
通讯作者：
Sisken,JE
影响因子：
11.1
作者：
Charles J. Epstein;David R. Cox;Steven A. Schonberg;Hogge Wa
通讯作者：
Charles J. Epstein;David R. Cox;Steven A. Schonberg;Hogge Wa