Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities
نویسندگان
چکیده
منابع مشابه
Four families with immunodeficiency and chromosome abnormalities.
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 P...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2017
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.38564