- 期刊
Potocki-Shaffer Syndrome: Report of One Case
Potocki-Shaffer症候群：一病例報告
摘要
Potocki-Shaffer症候群，又被稱第11對染色體短臂近端脫落症候群(proximal 11o deletion syndrome)或第11對染色體缺陷症候群(DEFECT 11 syndrome)，是第11對染色 短臂近端(11p)脫落所致，爲Potocki與Shaffer醫師於西元1996年所第一次發表出來，至今只有少數個案發表。 典型之臨床症狀爲兩側持續性頂骨孔，多發性外生骨贅，骨化不良所致頭顱顔面異常與智力障礙。其較不常見之症狀爲陰莖短小，隱睪，抽筋，低肌肉張力與斜視。 本病例爲一歲兩個月大之男嬰，有著典型的兩側異常頂骨孔，顱顔表徵異常，陰莖短小，低肌肉張力與發展遲緩。家庭史有二史長亦嚴重發展遲緩。染色體檢查證實患者與母親第11對染色體短臂近端11(p11.12p11.2)脫落，分子生物學檢證實患兒第11對染色體短臂近端脫落。但母親可能爲平衡移位，詳細的身體理學檢查及家庭史對本家庭性疾病診斷極具價值。
並列摘要
Potocki-Shaffer syndrome (PSS) results from deletion of proximal short arm of chromosome 11. We present a 14-month-old male baby with cardinal pictures of PSS such as bilateral parietalforaminae, abnormal craniofacial appearance, hypotonia and developmental delay. Cyto genetic study revealed deletion of chromosome 11 from p11.12 to p11.2 in this proband and his mother, but microsatellite marker study showed deletion only in this pro band. Despite previous negative chromosome study, positive family history with two similarly affected elder siblings and the finding of bilateral parietal foraminae finally lead to the etiologic diagnosis.
延伸閱讀
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