Del (9p) Syndrome: Report of Four Cases

第九對染色體短臂缺損症：四病例報告

侯家瑋(Jia-Woei Hou)

《Acta Paediatrica Taiwanica》 44卷1期 (2003/02) Pp. 50-53

https://doi.org/10.7097/APT.200302.0050

摘要

第九對染色體短臂缺捐症[del(9p)症]是一種罕見但極爲特殊的綜合病徵。典型症狀包括三角形頭、顔面中部發育不良、眼瞼裂上揚、人中長以及精神運動發展遲緩。本文報告四名del(9p)症病人，高解析度染色體分析顯示斷裂點均在第九對染色體的短臂9p22處。螢光性原位雜交法顯示幷無其他染色體之部分單體症或三體症而影響本報告病人的表現型。長期追踪發現del(9p)症病人的日後常有特殊的神經精神方面症狀。

關鍵字

第九对染色体 ； 9p缺损症 ； 神经精神问题

並列摘要

The chromosome 9p deletion [del (9p)] syndrome is a rare but specific clinical entity. The clinical manifestations include dysmorphic facial features (trigonocephaly, midface hypoplasia, upwardslanting palpebral fissures, and a long philtrum) and psychomotor retardation. Four patients with characteristic features of del (9p) syndrome were reported. Cytogenetic analysis showed a de novo deletion of the short arm of chromosome 9 with the breakpoint being located at band 9p22 in all cases. Fluorescence in situ hybridization using painting probe for chromosome 9 excluded translocations involving 9p and another chromosome. Long-term follow-up in these patients showed that neuropsychiatric problems were common in their later ages.

並列關鍵字

chromosome 9 ； del (9p) syndrome ； neuro-psychiatric problems