RT Journal Article
SR Electronic
T1 Four families with immunodeficiency and chromosome abnormalities.
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 518
OP 523
DO 10.1136/adc.54.7.518
VO 54
IS 7
A1 D C Candy
A1 A R Hayward
A1 D T Hughes
A1 L Layward
A1 J F Soothill
YR 1979
UL http://adc.bmj.com/content/54/7/518.abstract
AB 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.