Cakmak-Genc Gunes, Karakas-Celik Sevim, Dursun Ahmet, Piskin İbrahim Etem
Bulent Ecevit University, Faculty of Medicine, Department of Medical Genetics, Zonguldak, Turkey.
Bulent Ecevit University, Faculty of Medicine, Department of Medical Genetics, Zonguldak, Turkey.
Gene. 2015 Sep 1;568(2):211-4. doi: 10.1016/j.gene.2015.05.022. Epub 2015 May 13.
We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis with G-banding with Trypsin-Giemsa revealed 46,XX,der(9)t(4;9)(q28;p24) resulting from the mother's t(4,9) (q28;p24) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 4q are rare chromosomal alterations. To our knowledge, this is the first report of choanal atresia in a patient with a partial trisomy of 4q28-qter and partial monosomy 9p24-9ter combination, which were detected by integrated cytogenetic and genomic analysis.
我们报告了一名患有4q28-qter部分三体性和9p24-9ter部分单体性的新生女婴。我们的患者患有后鼻孔闭锁、眼距过宽、鼻梁宽、高拱腭、乳头分离、心脏缺陷、肌阵挛性癫痫以及各种畸形表现。采用胰蛋白酶-吉姆萨G显带进行的标准染色体分析显示，其核型为46,XX,der(9)t(4;9)(q28;p24)，源于母亲的t(4,9)(q28;p24)核型。9p末端缺失和4号染色体q部分三体是罕见的染色体改变。据我们所知，这是首例通过细胞遗传学和基因组综合分析检测到的4q28-qter部分三体性和9p24-9ter部分单体性组合患者出现后鼻孔闭锁的报告。
