Ozkinay F, Ercal D, Ozkinay C, Onay H, Bora E, Erler A
Ege University, Faculty of Medicine, Department of Pediatrics, Subdivision of Genetics and Teratology, Izmir, Turkey.
Genet Couns. 2005;16(1):45-8.
Chromosome analysis in a fetus revealed an abnormal appearance of chromosome 9. The secondary constriction region of chromosome 9 was very large and two separate G+ bands were observed within this region with GTG banding. Parents' karyotypes showed maternal inheritance of this variant chromosome 9. Two G+ bands were stained negative with C banding both in the fetus and in the mother. The mother was phenotypically normal. Regarding phenotypically normal mother, normal fetal ultrasonographic findings and the similar cases described before in the literature it was considered that the fetus would be normal. Physical examination of the baby was normal after birth as expected. The existence of two G+ bands in 9qh was considered to be a normal variant in humans.
对一名胎儿进行的染色体分析显示9号染色体外观异常。9号染色体的次缢痕区域非常大，在该区域内通过GTG显带观察到两条独立的G+带。父母的核型显示这种变异的9号染色体是母系遗传。在胎儿和母亲中，两条G+带经C显带染色均为阴性。母亲表型正常。鉴于母亲表型正常、胎儿超声检查结果正常以及文献中之前描述的类似病例，认为胎儿会是正常的。正如预期的那样，婴儿出生后的体格检查正常。9qh区域存在两条G+带被认为是人类的一种正常变异。
