Simpson-Golabi-Behmel syndrome is a congenital malformation syndrome associated with mutations in GPC3, which is located in the Xq26 region. Three new loss-of-function mutations and a global X-chromosome rearrangement involving GPC3 were identified. A female sibling of the patient, who presented with a cleft palate and hepatoblastoma, carries the same chromosomal rearrangement and a paradoxical pattern of X-chromosome inactivation. These findings support variable GPC3 alterations, with a possible mechanism in female patients.

中文翻译：

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Simpson-Golabi-Behmel综合征患者的GPC3功能丧失突变和整体重排。

Simpson-Golabi-Behmel综合征是与GPC3突变相关的先天性畸形综合征，该突变位于Xq26区。确定了三个新的功能丧失突变和涉及GPC3的全局X染色体重排。患者的女性兄弟姐妹出现pa裂和肝母细胞瘤，具有相同的染色体重排和X染色体失活的自相矛盾模式。这些发现支持可变的GPC3改变，可能与女性患者的机制有关。