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• W2051808727 abstract "We have collected and studied the genealogical data of 8 patients with the autosomal recessive syndrome of microcephaly, normal intelligence, immunodeficiency, risk of malignancy and chromosomal instability resembling ataxia telangiectasia (AT), but different in complementation group. 50% of our probands died from lymphoreticular malignancies in early childhood. We have found a significantly increased incidence of malignant tumors in 142 blood relatives as compared with a control group of 87 spouses. All patients belonged to the same complementation group differing from the 5 known AT complementation groups, which seems to be in general more malignant than all other groups of AT. From this standpoint our material is homogeneous in contrast to other similar studies in AT families. We think this syndrome represents another model to examine the relationship between genetic background, chromosomal abnormalities, immunodeficiency and cancer development." @default.
• W2051808727 created "2016-06-24" @default.
• W2051808727 creator A5038897253 @default.
• W2051808727 date "1990-05-01" @default.
• W2051808727 modified "2023-10-03" @default.
• W2051808727 title "An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability" @default.
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• W2051808727 doi "https://doi.org/10.1016/0165-1110(90)90024-6" @default.
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