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Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome
Author(s) -
Valkova Grozdana,
Ghenev Evgheny,
Tzancheva Maria
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb02781.x
Subject(s) - chromosome instability , immune system , biology , genetics , chromosome , gene
A four‐month‐old girl with facial dysmorphism, moderate mental retardation, immune deficiency (decreased IgG and IgA and absence of IgM), centromeric instability of chromosomes 1, 9, 16 and very rarely of chromosome 2, and disposition to formation of multibranched chromosomal figures, is described. The case is the fifth described with such chromosomal and immune abnormalities, which prove the existence of a new syndrome. The authors suggest an autosomal recessive inheritance.