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A case with 46, XX, del (11) (q21)
Author(s) -
Faust J.,
Vogel W.,
Löning B.
Publication year - 1974
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.1399-0004.1974.tb00637.x
Subject(s) - genetics , biology , karyotype , phenotype , gene , chromosome , microbiology and biotechnology
The cytogenetic analysis of a child with unspecific dysplastic signs revealed the karyotype: 46, XX, del(11) (q21). Two hypotheses could explain the mild phenotypical expression of this deletion: 1) The material of the deficient part of chromosome 11 is genetically inert or redundant (which seems unlikely); 2) “Gene‐dosis‐compensation” occurs for the loss of genes on the deficient part of chromosome 11.