Fuster C, Miguez L, Miró R, Rigola M A, Perez A, Egozcue J
Departament de Biologia Cel.lular i Fisiologia, Facultat de Medicina, Universitat Autónoma de Barcelona, Bellaterra, Spain.
J Med Genet. 1997 Feb;34(2):164-6. doi: 10.1136/jmg.34.2.164.
A complex familial chromosome translocation has been ascertained by combining classical cytogenetics and CISS (chromosomal in situ suppression). Cytogenetic analysis of a chorionic villus sample with G banding showed a 47,XX,-2, +der(2)t(2;22),+der(22)t(2;22) karyotype. Analysis of peripheral blood lymphocytes from the parents by G banding and CISS showed a more complex translocation in the father: 46,XY,-2,-11,-22, +der(2) t(2;11)(q13;q23), +der(11) t(11;22) (q23;q11.2), +der(22) t(2;22) (q13;q11.2). Definitive analysis of cultured amniotic fluid cells showed a double partial trisomy of chromosomes 11 and 22. The couple decided to continue the pregnancy. The fetal karyotype was confirmed at birth. Clinical abnormalities present in our patient were typical of an unbalanced 11;22 translocation. Our findings confirm that chromosome painting techniques allow a better characterisation of complex chromosome rearrangements which may be difficult to detect in G banded karyotypes.
通过结合经典细胞遗传学和染色体原位抑制技术（CISS），已确定了一种复杂的家族性染色体易位。对绒毛膜绒毛样本进行G显带细胞遗传学分析显示核型为47,XX,-2, +der(2)t(2;22),+der(22)t(2;22)。通过G显带和CISS对父母外周血淋巴细胞进行分析显示，父亲存在更复杂的易位：46,XY,-2,-11,-22, +der(2) t(2;11)(q13;q23), +der(11) t(11;22) (q23;q11.2), +der(22) t(2;22) (q13;q11.2)。对培养的羊水细胞进行的最终分析显示存在11号和22号染色体的双部分三体。这对夫妇决定继续妊娠。出生时确认了胎儿核型。我们患者出现的临床异常是不平衡的11;22易位的典型表现。我们的研究结果证实，染色体描绘技术能够更好地对复杂的染色体重排进行特征描述，而这些重排在G显带核型中可能难以检测到。
