四个患有免疫缺陷和染色体异常的家庭。
Four families with immunodeficiency and chromosome abnormalities.
作者信息
Candy D C, Hayward A R, Hughes D T, Layward L, Soothill J F
出版信息
Arch Dis Child. 1979 Jul;54(7):518-23. doi: 10.1136/adc.54.7.518.
Six children, with severe deficiency of some or all of the immunoglobulins and minor somatic abnormalities, had chromosomal abnormalities: (1) 45,XY,t(13q/18q), (2) 46,XY,21ps +, (3) two brothers 46,XY (inv. 7) (4) 45,X,t(11p/10p)/46X,iXq,t(11p/10p) and, (5) in addendum, 45,XX,-18;46,XX, r18. The chromosome abnormalities were detected in B- as well as T-lymphocytes (as evidenced by using both PHA- and PWM-stimulated cultures) in all probands, but one was mosaic in PHA culture, although all his PWM-stimulated cells were abnormal. Chromosomal variants were also detected in relatives of three and immunodeficiency in relatives of two.
6名儿童存在部分或全部免疫球蛋白严重缺乏及轻微躯体异常，伴有染色体异常：(1)45,XY,t(13q/18q)；(2)46,XY,21ps +；(3)两兄弟为46,XY(inv. 7)；(4)45,X,t(11p/10p)/46X,iXq,t(11p/10p)；(5)此外，还有45,XX,-18;46,XX, r18。在所有先证者的B淋巴细胞和T淋巴细胞中均检测到染色体异常（通过PHA和PWM刺激培养均得以证实），但有1名先证者在PHA培养中为嵌合体，不过其所有PWM刺激的细胞均异常。在3名先证者的亲属中也检测到染色体变异，在2名先证者的亲属中检测到免疫缺陷。
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