Hacihanefioğlu S, Güven G S, Deviren A, Silahtaroğlu A N, Yosunvkaya Fenerci E, Ozkiliç A, Yüksel A
Genetic and Teratology Research Center (GETAM), Istanbul University, Turkey.
Genet Couns. 2002;13(1):41-8.
We report an eleven years old boy and his fourteen years old brother who both have trisomy 9p syndrome. Their cytogenetic analysis using GTL-banding showed 46,XY,der(22)add(22)(p11) karyotype. Cytogenetic analysis of their mother and sister revealed a karyogram designated as 46,XX,t(9;22) (9pter-->9p12::22p11-->22qter). With the help of FISH technique, the derivative chromosome in the proband was further confirmed to be a translocation chromosome 22 carrying the aforementioned segments from chromosome 9 which originated from a segregation event of a mother's balanced translocation. Regarding clinical aspects of our cases, both showed similar findings of 9p trisomy syndrome but low frontal hairline, circular placement of the hair around the face and scarce, inverted eyebrows, findings not previously mentioned in the literature. We conclude that these new clinical findings could be used in the clinical diagnosis of the 9p trisomy syndrome along with the other well-documented symptoms.
我们报告了一名11岁男孩及其14岁的哥哥，他们都患有9p三体综合征。使用GTL显带技术对他们进行的细胞遗传学分析显示核型为46,XY,der(22)add(22)(p11)。对他们的母亲和姐姐进行的细胞遗传学分析显示核型为46,XX,t(9;22) (9pter-->9p12::22p11-->22qter)。借助荧光原位杂交（FISH）技术，先证者的衍生染色体被进一步确认为是一条22号易位染色体，其携带了来自9号染色体的上述片段，该片段源于母亲平衡易位的一次分离事件。关于我们病例的临床情况，两人均表现出9p三体综合征的相似表现，但额发际线低、面部周围毛发呈圆形分布且眉毛稀少、倒置，这些表现此前文献中未提及。我们得出结论，这些新的临床发现可与其他已充分记录的症状一起用于9p三体综合征的临床诊断。
