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先证者,检查号血909号,4岁半,由于有出血倾向于1981年12月来我院附一院血液室就诊,因体查中发现智力较差,在询问家族史时发现有两个舅舅智力亦差而转我遗传咨询门诊。外周血 G 显带染色体检查发现除两条正常的20号染色体外,尚有一条类似于20号,但形态略有差别的染色体。为了准确鉴定其核型,取其母,兄,大舅,二舅,二姨,四舅,外祖父,外祖母的外周血作了 G 显带染色体分析。结果,其外祖父染色体正常,其大舅,二舅具有先证者相同的异常染色体,其母,兄,二姨,四舅、外祖母为9号和22号染色体短臂相互易位型携带者,他(她)们的核型为:46,XY(XX),t(9,22)(P13;P12)。通过家系中携带者的检出与核型鉴定使我们确认其先证者及其大舅、二舅为9号染色体短臂部份三体型的患者,其核型为46,XY,-22,+der(22),t(9;22)(p13;p12)。
Probate, examination No. 909 blood, 4 years and a half, due to bleeding tendency in December 1981 came to our hospital with a hospital blood bank treatment, found in the investigation of mental retardation, found in the family history when there are two My uncle’s intelligence is also poor and turn my genetic counseling clinic. G-banding of peripheral blood chromosome examination found that in addition to two normal chromosome 20, there is a similar to the 20, but slightly different form of chromosome. In order to accurately identify the karyotype, take the mother, brother, uncle, uncle, aunt, uncle, grandfather and grandmother’s peripheral blood for G-banding chromosome analysis. As a result, his grandfather chromosomes were normal. His uncle and his uncle had the same abnormal chromosomes as the probands. The mother, brother, second aunt, fourth uncle, and grandmother were short-arm transposable carriers of chromosomes 9 and 22, Karyotypes are 46, XY (XX), t (9,22) (P13; P12). The detection and karyotype identification of carriers in pedigrees confirmed that their probands and their eldest uncle and uncle II were part of the trisomy of the short arm of chromosome 9 with karyotype 46, XY, -22, + der (22), t (9; 22) (p13; p12).