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pubmed-article:4006276pubmed:abstractTextWe describe an extended study of a boy with combined immunodeficiency and centromeric fragility of chromosomes 1 and 16. This case, together with three previously reported cases with similar clinical, immunological and chromosomal features, appears to confirm a specific syndrome of immune deficiency associated with centromeric fragility of chromosomes 1, 9 and 16.lld:pubmed
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pubmed-article:4006276pubmed:articleTitleCentromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome.lld:pubmed
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