Cappon S L, Duncan A M, Khalifa M M
Department of Paediatrics, Queen's University and Kingston General Hospital, Kingston, Canada.
Med Sci Monit. 2000 May-Jun;6(3):581-5.
We report on a 28 year-old male with peculiar facies, distal joint contractures and other multiple congenital anomalies. Cytogenetic analysis by G banding revealed a distal tandem interstitial duplication of the long arm of chromosome q6, dup.(6)(6q24.2-->q26). This chromosome abnormality was confirmed by fluorescence in situ hybridization with total chromosome 6 painting. This is probably the second documented case of 6q duplication without growth retardation or severe psychomotor retardation. The clinical findings in our patient are similar to that of whistling face syndrome (WFS) and, in fact, he was diagnosed with WFS as a child. The literature were reviewed and the phenotypic features of this patient were compared with those previously reported for both duplication 6q and whistling face syndromes. There is a significant overlap between the phenotypes of these two syndromes. Careful evaluation of the terminal end of the 6q in cases suggestive of WFS might be warranted.
我们报告了一名28岁男性，其具有特殊面容、远端关节挛缩及其他多种先天性异常。通过G显带进行的细胞遗传学分析显示，6号染色体长臂存在远端串联性间质重复，即dup.(6)(6q24.2→q26)。通过使用6号全染色体涂染的荧光原位杂交技术证实了这一染色体异常。这可能是第二例有记录的6q重复但无生长发育迟缓或严重精神运动发育迟缓的病例。我们患者的临床发现与吹口哨面容综合征（WFS）相似，事实上，他小时候被诊断为WFS。我们回顾了文献，并将该患者的表型特征与先前报道的6q重复和吹口哨面容综合征的表型特征进行了比较。这两种综合征的表型之间存在显著重叠。对于疑似WFS的病例，可能有必要仔细评估6q的末端。
